Inborn Errors Of Metabolism – Definitions & ICD 11 Codes

Definition of Inborn Errors Of Metabolism: Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Exclusions:

Inborn errors of amino acid or other organic acid metabolism

ICD 11 Code For Inborn errors of amino acid or other organic acid metabolism

  5C50  Inborn errors of amino acid or other organic acid metabolism

5C50.0 Phenylketonuria

Definition of Phenylketonuria: Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.

5C50.00 Classical phenylketonuria

Definition of Classical phenylketonuria: Classical phenylketonuria is a severe form of phenylketonuria (PKU, ) an inborn error of amino acid metabolism characterised in untreated patients by severe intellectual deficit and neuropsychiatric complications.

5C50.01 Nonclassical phenylketonuria

Definition of Nonclassical phenylketonuria: Mild phenylketonuria is a rare form of phenylketouria (PKU, ), an inborn error of amino acid metabolism, characterised by symptoms of PKU of mild to moderate severity.

5C50.02 Embryofetopathy due to maternal phenylketonuria

Definition of Embryofetopathy due to maternal phenylketonuria: Maternal phenylalaninaemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-oesophageal abnormalities.

5C50.0Y Other specified phenylketonuria

5C50.0Z Phenylketonuria unspecified

5C50.1 Disorders of tyrosine metabolism

Coded Elsewhere:

  • Transitory tyrosinaemia of newborn (KB63.4)
  • Autosomal recessive dopa-responsive dystonia (8A02.11)
  • Oculocutaneous albinism type 1A (EC23.20)
  • Oculocutaneous albinism type 1B (EC23.20)

5C50.10 Alkaptonuria

Definition of Alkaptonuria: Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

5C50.11 Tyrosinaemia type 1

Definition of Tyrosinemia type 1: Tyrosinemia type 1 is an inborn error of amino acid metabolism characterised by hepatorenal manifestations. The early-onset acute form of the disorder manifests between 15 days and 3 months after birth with hepatocellular necrosis. Septicaemia is a frequent complication. Renal tubular dysfunction occurs and is associated with phosphate loss and hypophosphatemic rickets. A later onset form has also been described and manifests with vitamin-resistant rickets caused by renal tubular dysfunction.

5C50.12 Tyrosinaemia type 2

Definition of Tyrosinemia type 2: Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterised by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit.

5C50.1Y Other specified disorders of tyrosine metabolism

5C50.1Z Disorders of tyrosine metabolism unspecified

5C50.2 Disorders of histidine metabolism

Coded Elsewhere:

  • Formiminoglutamic aciduria (3A02.Y)

5C50.20 Histidinaemia

Definition of Histidinaemia: Histidinemia is a disorder of histidine metabolism caused by a defect in histidase, and seems to be benign in most affected individuals.

5C50.21 Urocanic aciduria

Definition of Urocanic aciduria: This is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.

5C50.2Y Other specified disorders of histidine metabolism

5C50.2Z Disorders of histidine metabolism unspecified

5C50.3 Disorders of tryptophan metabolism

Exclusions:

  • Hartnup disease (5C60)

5C50.4 Disorders of lysine or hydroxylysine metabolism

Exclusions:

  • Refsum disease (5C57.1)
  • Zellweger syndrome (5C57.0)
  • Glutaryl-CoA dehydrogenase deficiency (5C50.E1)

5C50.5 Disorders of the gamma-glutamyl cycle

Coded Elsewhere:

  • Haemolytic anaemia due to glutathione synthetase deficiency (3A10.0Y)
  • Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency (3A10.0Y)

5C50.6 Disorders of serine metabolism

5C50.7 Disorders of glycine metabolism

5C50.70 Glycine encephalopathy

Definition of Glycine encephalopathy: Isolated nonketotic hyperglycinemia is an inborn disorder of glycine metabolism which onset is generally neonatal with coma, severe hypotonia, myoclonic seizures, and microcephaly, usually progressing to severe intellectual deficit and tetrapyramidal syndrome.

5C50.71 Sarcosinaemia

Definition of Sarcosinaemia: Sarcosinaemia is a metabolic disorder characterised by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28,000 to 1:350,000 in newborn screening programs. Sarcosinaemia is most probably a benign condition without significant clinical problems. It is transmitted in an autosomal recessive manner. Mutations in the gene for sarcosine dehydrogenase, located on chromosome 9q34, have been associated with this deficiency.

5C50.7Y Other specified disorders of glycine metabolism

5C50.7Z Disorders of glycine metabolism unspecified

5C50.8 Disorders of proline or hydroxyproline metabolism

5C50.9 Disorders of ornithine metabolism

Coded Elsewhere:

  • Hyperornithinaemia-hyperammonaemia-homocitrullinuria (5C50.AY)
  • Ornithine carbamoyltransferase deficiency (5C50.AY)

5C50.A Disorders of urea cycle metabolism

Exclusions:

  • Disorders of ornithine metabolism (5C50.9)
  • Lysinuric protein intolerance (5C60)

5C50.A0 Argininosuccinic aciduria

Definition of Argininosuccinic aciduria: Argininosuccinic aciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioural disorders. Onset can also occur later with hyperammonemic coma or behavioural disorders that simulate psychiatric disorders.

5C50.A1 Carbamoylphosphate synthetase deficiency

Definition of Carbamoylphosphate synthetase deficiency: Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis.

5C50.A2 Argininaemia

Definition of Argininaemia: Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

5C50.A3 Citrullinaemia

5C50.AY Other specified disorders of urea cycle metabolism

5C50.AZ Disorders of urea cycle metabolism unspecified

5C50.B Disorders of methionine cycle or sulphur amino acid metabolism

Coded Elsewhere:

  • Hereditary megaloblastic anaemia due to transcobalamin deficiency (3A01.0)

5C50.C Disorders of beta or omega amino acid metabolism

Exclusions:

  • 4-hydroxybutyric aciduria (5C50.E1)

Coded Elsewhere:

  • Gamma aminobutyric acid transaminase deficiency (5C59.1)

5C50.D Disorders of branched-chain amino acid metabolism

Exclusions:

  • Methylmalonic acidaemia (5C50.E0)
  • Propionic acidaemia (5C50.E0)
  • Isovaleric acidaemia (5C50.E0)
  • 3-methylglutaconic aciduria (5C50.E0)
  • Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency (5C50.E0)
  • 3-hydroxyisobutyric aciduria (5C50.E0)

5C50.D0 Maple-syrup-urine disease

Definition of Maple syrup urine disease: Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids metabolism. Four forms are described. The early onset classic form manifests after birth by lethargy, poor feeding and neurological signs of intoxication. Clinical course without treatment is characterised by deepening coma with maple syrup odour of urine. Subacute MSUD manifests later with encephalopathy, mental disability, major hypotonia, opisthotonus and cerebral atrophy with severe outcome. The intermittent form of MSUD may manifest at any age and presents with repeated ketoacidotic coma. Thiamine-responsive MSUD is a very rare form characterised by improvement of the biochemical profile with thiamine therapy.

5C50.DY Other specified disorders of branched-chain amino acid metabolism

5C50.DZ Disorders of branched-chain amino acid metabolism unspecified

5C50.E Organic aciduria

Definition of Organic aciduria: An inborn error of metabolism disrupting normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids, which are usually not present

5C50.E0 Classical organic aciduria

Definition of Classical organic aciduria: This a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.

Coded Elsewhere:

  • Ketoacidosis due to beta-ketothiolase deficiency (5C50.DY)

5C50.E1 Cerebral organic aciduria

Definition of Cerebral organic aciduria: This is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.

5C50.EY Other specified organic aciduria

5C50.EZ Organic aciduria unspecified

5C50.F Disorders of peptide metabolism

Definition of Disorders of peptide metabolism: A condition which refers to inborn errors in peptide metabolism.

Exclusions:

  • Disorders of gamma aminobutyric acid metabolism (5C59.1)

5C50.F0 Prolidase deficiency

Definition of Prolidase deficiency: Prolidase deficiency is a very rare inborn error of metabolism characterised by mild to severe skin lesions particularly on the face, palms, lower legs and soles, together with other variable features.

5C50.F1 Carnosinaemia

Definition of Carnosinaemia: Carnosinaemia is a very rare inherited disorder of the metabolism of peptides that presents with serum carnosinase deficiency, variable degrees of intellectual deficit, sometimes with seizures, while a few patients are asymptomatic.

5C50.F2 Homocarnosinosis

Definition of Homocarnosinosis: Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.

5C50.FY Other specified disorders of peptide metabolism

5C50.FZ Disorders of peptide metabolism unspecified

5C50.G Trimethylaminuria

Definition of Trimethylaminuria: Trimethylaminuria is a metabolic disorder characterised by a body malodour similar to that of decaying fish.

Inclusions:

  • Fish odour syndrome

5C50.Y Other specified inborn errors of amino acid or other organic acid metabolism

5C50.Z Inborn errors of amino acid or other organic acid metabolism unspecified

Inborn errors of carbohydrate metabolism

ICD 11 Code For Inborn errors of carbohydrate metabolism

  5C51  Inborn errors of carbohydrate metabolism

Exclusions:

5C51.0 Disorders of the pentose phosphate pathway

Coded Elsewhere:

5C51.1 Disorders of glycerol metabolism

5C51.2 Disorders of glyoxylate metabolism

Definition of Disorders of glyoxylate metabolism: Primary hyperoxaluria, or oxalosis, is a rare metabolic disorder transmitted as an autosomal recessive disease, including both type 1, the most frequent, and type 2, extremely rare. Hyperoxaluria type 1 is due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Hyperoxaluria type 2 is extremely rare and is due to glycerate dehydrogenase deficiency.

5C51.20 Primary hyperoxaluria type 1

Definition of Primary hyperoxaluria type 1: Primary hyperoxaluria type 1 is a rare metabolic disorder due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). The infantile form is characterised by chronic renal failure due to massive oxalate deposition. In other patients, urolithiasis develops with infections, haematuria, renal colic or acute renal failure due to complete obstruction. End-stage renal failure occurs before 15 years of age in half the cases and the resulting increase of circulating oxalate leads to its deposition in tissues causing cardiac conduction defects, hypertension, distal gangrene, and reduced joint mobility and pain.

5C51.2Y Other specified disorders of glyoxylate metabolism

5C51.2Z Disorders of glyoxylate metabolism unspecified

5C51.3 Glycogen storage disease

Definition of Glycogen storage disease: The term Glycogen storage disease characterises a group of heterogeneous diseases resulting from defects in the process of glycogen synthesis or breakdown within muscles, liver, and other cell types.

5C51.4 Disorders of galactose metabolism

5C51.40 Galactose-1-phosphate uridyltransferase deficiency

Definition of Galactose-1-phosphate uridyltransferase deficiency: Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

5C51.41 Galactokinase deficiency

Definition of Galactokinase deficiency: Galactokinase deficiency is a rare mild form of galactosemia characterised by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

5C51.42 Glucose or galactose intolerance of newborn

5C51.4Y Other specified disorders of galactose metabolism

5C51.4Z Disorders of galactose metabolism unspecified

5C51.5 Disorders of fructose metabolism

Definition of Disorders of fructose metabolism: This refers to disorders of the metabolism of fructose in the phosphorylation of fructose to fructose 1-phosphate by fructokinase, thus trapping fructose for metabolism in the liver.

Coded Elsewhere:

5C51.50 Hereditary fructose intolerance

Definition of Hereditary fructose intolerance: Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterised by severe abdominal pain, vomiting, and hypoglycaemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate.

Exclusions:

  • Fructose malabsorption (5C61.40)

5C51.5Y Other specified disorders of fructose metabolism

5C51.5Z Disorders of fructose metabolism unspecified

5C51.Y Other specified inborn errors of carbohydrate metabolism

5C51.Z Inborn errors of carbohydrate metabolism unspecified

Inborn errors of lipid metabolism

ICD 11 Code For Inborn errors of lipid metabolism

  5C52  Inborn errors of lipid metabolism

Coded Elsewhere:

  • Retinal dystrophy in lipid storage disorders (9B71.Y)

5C52.0 Inborn errors of fatty acid oxidation or ketone body metabolism

Coded Elsewhere:

  • Adrenoleukodystrophy (8A44.1)

5C52.00 Disorders of carnitine transport or the carnitine cycle

5C52.01 Disorders of mitochondrial fatty acid oxidation

5C52.02 Disorders of ketone body metabolism

Coded Elsewhere:

  • Cytosolic acetoacetyl-CoA thiolase deficiency (5C50.DY)

5C52.03 Sjögren-Larsson syndrome

Definition of Sjögren-Larsson syndrome: Sjögren-Larsson syndrome is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterised by congenital ichthyosis, intellectual deficit, and spasticity.

5C52.0Y Other specified inborn errors of fatty acid oxidation or ketone body metabolism

5C52.0Z Inborn errors of fatty acid oxidation or ketone body metabolism unspecified

5C52.1 Inborn errors of sterol metabolism

Coded Elsewhere:

  • X-linked ichthyosis (EC20.01)

5C52.10 Disorders of cholesterol synthesis

Coded Elsewhere:

  • Chondrodysplasia punctata, X-linked dominant (LD24.04)
  • Greenberg dysplasia (LD24.04)
  • Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects (LD24.04)
  • Hyperalphalipoproteinaemia due to cholesteryl ester transfer protein deficiency (5C80.3)

5C52.11 Bile acid synthesis defect with cholestasis

Definition of Bile acid synthesis defect with cholestasis: Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Eight inborn errors have been clearly identified, 7 of which lead to liver cholestasis and include: 3-beta-hydroxy-C27-steroid oxidoreductase deficiency (type 1), delta4-3-oxosteriod-5-beta reductase deficiency (type 2), oxysterol 7alpha-hydroxylase deficiency (type 3), 2-methylacyl-CoA racemase deficiency (type 4), bile acid CoA ligase deficiency, and cerebrotendinous xanthomatosis. Cholesterol 7alpha-hydroxylase deficiency leads to hypercholesterolaemia without liver cholestasis.

5C52.1Y Other specified inborn errors of sterol metabolism

5C52.1Z Inborn errors of sterol metabolism unspecified

5C52.2 Neutral lipid storage disease

Definition of Neutral lipid storage disease: Neutral lipid storage disease (NLSD) refers to a group of diseases characterised by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.

5C52.Y Other specified inborn errors of lipid metabolism

5C52.Z Inborn errors of lipid metabolism unspecified

Inborn errors of energy metabolism

ICD 11 Code For Inborn errors of energy metabolism

  5C53  Inborn errors of energy metabolism

5C53.0 Disorders of pyruvate metabolism

5C53.00 Pyruvate kinase deficiency

Definition of Pyruvate kinase deficiency: This refers an enzyme involved in glycolysis. It catalyzes the transfer of a phosphate group from phosphoenolpyruvate (PEP) to ADP, yielding one molecule of pyruvate and one molecule of ATP.

Coded Elsewhere:

  • Glycogen storage disease due to muscle pyruvate kinase deficiency (5C51.3)
  • Haemolytic anaemia due to red cell pyruvate kinase deficiency (3A10.Y)

5C53.01 Lactate dehydrogenase deficiency

Definition of Lactate dehydrogenase deficiency: This refers to a deficiency in the enzyme present in a wide variety of organisms, including plants and animals. This exist in four distinct enzyme classes. Two of them are cytochrome c-dependent enzymes, each acting on either D-lactate (EC 1.1.2.4) or L-lactate (EC 1.1.2.3). The other two are NAD(P)-dependent enzymes, each acting on either D-lactate (EC 1.1.1.28) or L-lactate (EC 1.1.1.27). This article is about the NAD(P)-dependent L-lactate dehydrogenase.

5C53.02 Pyruvate dehydrogenase complex deficiency

Definition of Pyruvate dehydrogenase complex deficiency: Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.

5C53.03 Pyruvate carboxylase deficiency

Definition of Pyruvate carboxylase deficiency: This is a deficiency in the enzyme of the ligase class that catalyzes the (depending on the species) irreversible carboxylation of pyruvate to form oxaloacetate (OAA).

5C53.0Y Other specified disorders of pyruvate metabolism

5C53.0Z Disorders of pyruvate metabolism unspecified

5C53.1 Disorders of the citric acid cycle

5C53.2 Disorders of mitochondrial oxidative phosphorylation

Definition of Disorders of mitochondrial oxidative phosphorylation: An inborn error of metabolism in cellular respiration (oxidative phosphorylation) in the mitochondria, where a series of enzymes catalyze the transfer of electrons to molecular oxygen and the generation of energy-storing ATP

Coded Elsewhere:

  • Neuropathy, ataxia, and retinitis pigmentosa (8C73.1)

5C53.20 Mitochondrial DNA depletion syndromes

Definition of Mitochondrial DNA depletion syndromes: The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign ‘later-onset’ myopathic form or a cardiomyopathic form.

Coded Elsewhere:

  • Childhood-onset autosomal dominant optic atrophy (9C40.8)

5C53.21 Multiple mitochondrial DNA deletion syndromes

Definition of Multiple mitochondrial DNA deletion syndromes: This is the multiple DNA located in organelles called mitochondria, structures within eukaryotic cells that convert the chemical energy from food into a form that cells can use, adenosine triphosphate (ATP).

Coded Elsewhere:

  • Progressive external ophthalmoplegia, autosomal dominant (9C82.0)
  • Progressive external ophthalmoplegia, autosomal recessive (9C82.0)
  • Autosomal dominant optic atrophy plus syndrome (9C40.8)
  • Deafness – optic atrophy syndrome (LD2H.Y)
  • Autosomal dominant optic atrophy and cataract (9C40.8)

5C53.22 Coenzyme Q10 deficiency

Definition of Coenzyme Q10 deficiency: This is a deficiency in a 1,4-benzoquinone, where Q refers to the quinone chemical group, and 10 refers to the number of isoprenyl chemical subunits in its tail. This oil-soluble, vitamin-like substance is present in most eukaryotic cells, primarily in the mitochondria. It is a component of the electron transport chain and participates in aerobic cellular respiration, generating energy in the form of ATP.

Coded Elsewhere:

  • Cerebellar atrophy – ataxia – seizures (LD90.Y)

5C53.23 Mitochondrial protein translation defects

Definition of Mitochondrial protein translation defects: This refers to defects in the enzyme that belongs to the family of hydrolases, specifically those acting on acid anhydrides to catalyse transmembrane movement of substances.

Coded Elsewhere:

5C53.24 Leigh syndrome

Definition of Leigh syndrome: Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. Loss of motor milestones, hypotonia with poor head control, recurrent vomiting, and a movement disorder are common initial symptoms. Pyramidal and extrapyramidal signs, nystagmus, breathing disorders, ophthalmoplegia and peripheral neuropathy are often noted later. Epilepsy is relatively uncommon. Leigh syndrome has multiple causes, all of which imply a defect in aerobic energy production, ranging from the pyruvate dehydrogenase complex to the oxidative phosphorylation pathway.

Coded Elsewhere:

  • Maternally inherited Leigh syndrome (8C73.Y)

5C53.25 Isolated ATP synthase deficiency

5C53.2Y Other specified disorders of mitochondrial oxidative phosphorylation

5C53.2Z Disorders of mitochondrial oxidative phosphorylation unspecified

5C53.3 Disorders of mitochondrial membrane transport

Definition of Disorders of mitochondrial membrane transport: An inborn error of metabolism in proteins in the membranes of mitochondria, which serve to transport molecules and other factors such as ions into or out of the organelles

5C53.30 Mitochondrial substrate carrier disorders

Coded Elsewhere:

  • Autosomal recessive sideroblastic anaemia, pyridoxine-refractory (3A72.00)

5C53.31 Mitochondrial protein import disorders

Definition of Mitochondrial protein import disorders: This refers to disorders in the enzyme belongs to the family of hydrolases, specifically those acting on acid anhydrides to catalyse transmembrane movement of substances.

Coded Elsewhere:

  • Deafness-dystonia optic atrophy syndrome (8A02.12)

5C53.3Y Other specified disorders of mitochondrial membrane transport

5C53.3Z Disorders of mitochondrial membrane transport unspecified

5C53.4 Disorders of creatine metabolism

Definition of Disorders of creatine metabolism: An inborn error of metabolism in creatine which serves as an energy shuttle between the mitochondrial sites of ATP production and the cytosol where ATP is utilized

5C53.Y Other specified inborn errors of energy metabolism

5C53.Z Inborn errors of energy metabolism unspecified

Inborn errors of glycosylation or other specified protein modification

Definition of Inborn errors of glycosylation or other specified protein modification: Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterised by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.

ICD 11 Code For Inborn errors of glycosylation or other specified protein modification

  5C54  Inborn errors of glycosylation or other specified protein modification

5C54.0 Disorders of protein N-glycosylation

Definition of Disorders of protein N-glycosylation: Congenital disorders involving defective N-glycosylation of proteins (the addition of glycans linked to the polypeptide chain by a beta-linkage between the anomeric carbon of N-acetylglucosamine and the amido group of L-asparagine).

5C54.1 Disorders of protein O-glycosylation

Definition of Disorders of protein O-glycosylation: Congenital disorders involving defective O-linked glycosylation, which typically occurs via an alpha linkage of the glycan to the hydroxyl group of a serine or threonine residue on a protein

Coded Elsewhere:

  • Multiple osteochondromas (LD24.20)

5C54.2 Disorders of multiple glycosylation or other pathways

Coded Elsewhere:

5C54.Y Other specified congenital disorders of glycosylation and protein modification

5C54.Z Congenital disorders of glycosylation and protein modification unspecified

Inborn errors of purine pyrimidine or nucleotide metabolism

ICD 11 Code For Inborn errors of purine pyrimidine or nucleotide metabolism

  5C55  Inborn errors of purine pyrimidine or nucleotide metabolism

Exclusions:

  • Xeroderma pigmentosum (LD27.1)
  • Calculus of kidney (GB70.0)

5C55.0 Disorders of purine metabolism

Coded Elsewhere:

5C55.00 Xanthinuria

5C55.01 Lesch-Nyhan syndrome

Definition of Lesch-Nyhan syndrome: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioural problems. Patients are normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia and athetoid movements. Sandy urine in diapers or crystalluria with urinary tract obstruction are common forms of presentation. Patients usually show mild to moderate intellectual deficit. Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis. Inheritance is X-linked recessive.

5C55.0Y Other specified disorders of purine metabolism

5C55.0Z Disorders of purine metabolism unspecified

5C55.1 Disorders of pyrimidine metabolism

Coded Elsewhere:

5C55.2 Disorders of nucleotide metabolism

Coded Elsewhere:

  • Haemolytic anaemia due to adenosine triphosphatase deficiency (3A10.Y)

5C55.Y Other specified inborn errors of purine pyrimidine or nucleotide metabolism

5C55.Z Inborn errors of purine pyrimidine or nucleotide metabolism unspecified

Lysosomal diseases

ICD 11 Code For Lysosomal diseases

  5C56  Lysosomal diseases

Exclusions:

  • Glycogen storage disease due to LAMP-2 deficiency (5C51.3)

5C56.0 Sphingolipidosis

Coded Elsewhere:

  • Krabbe disease (8A44.4)

5C56.00 Gangliosidosis

5C56.01 Fabry disease

Definition of Fabry disease: Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterised by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Coded Elsewhere:

  • Glomerular disease associated with Fabry disease (GB4Z)

5C56.02 Metachromatic leukodystrophy

Definition of Metachromatic leukodystrophy: Metachromatic leukodystrophy is a neurodegenerative disease characterised by an accumulation of sulfatides (sulphated glycosphingolipids, especially sulfogalactosylceramides or sulfogalactocerebrosides) in the nervous system and kidneys. Three forms of the disease exist: late infantile, juvenile and adult.

5C56.0Y Other specified sphingolipidosis

5C56.0Z Sphingolipidosis unspecified

5C56.1 Neuronal ceroid lipofuscinosis

Definition of Neuronal ceroid lipofuscinoses: Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterised clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

5C56.2 Glycoproteinosis

Definition of Glycoproteinosis: These are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins.

5C56.20 Mucolipidosis

Exclusions:

  • Sialidosis (mucolipidosis type 1) (5C56.21)

Coded Elsewhere:

  • Mucolipidosis type 4 (5C56.0Y)
  • Wolman disease (5C56.0Y)

5C56.21 Oligosaccharidosis

5C56.2Y Other specified glycoproteinosis

5C56.2Z Glycoproteinosis unspecified

5C56.3 Mucopolysaccharidosis

Inclusions:

  • Disorders of glycosaminoglycan metabolism

5C56.30 Mucopolysaccharidosis type 1

Definition of Mucopolysaccharidosis type 1: Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype.

5C56.31 Mucopolysaccharidosis type 2

Definition of Mucopolysaccharidosis type 2: Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses).

Inclusions:

  • Hunter syndrome

5C56.32 Mucopolysaccharidosis type 4

Definition of Mucopolysaccharidosis type 4: Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two clinically indistinguishable forms, A and B. A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB.

5C56.33 Mucopolysaccharidosis type 6

Definition of Mucopolysaccharidosis type 6: Mucopolysaccharidosis type 6 (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms.

5C56.3Y Other specified mucopolysaccharidosis

5C56.3Z Mucopolysaccharidosis unspecified

5C56.4 Disorders of sialic acid metabolism

Definition of Disorders of sialic acid metabolism: This refers to any disorders of the N- or O-substituted derivatives of neuraminic acid, a monosaccharide with a nine-carbon backbone.

5C56.Y Other specified lysosomal diseases

5C56.Z Lysosomal diseases unspecified

Peroxisomal diseases

Definition of Peroxisomal diseases: Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.

ICD 11 Code For Peroxisomal diseases

  5C57  Peroxisomal diseases

Coded Elsewhere:

  • Primary hyperoxaluria type 1 (5C51.20)
  • Adrenoleukodystrophy (8A44.1)
  • Rhizomelic chondrodysplasia punctata (LD24.04)
  • Glutaric aciduria type 3 (5C50.E0)

5C57.0 Disorders of peroxisome biogenesis

Definition of Disorders of peroxisome biogenesis: Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.

5C57.1 Disorders of peroxisomal alpha- beta- or omega-oxidation

Coded Elsewhere:

  • Congenital bile acid synthesis defect type 4 (5C52.11)

5C57.Y Other specified peroxisomal diseases

5C57.Z Peroxisomal diseases unspecified

Inborn errors of porphyrin or heme metabolism

ICD 11 Code For Inborn errors of porphyrin or heme metabolism

  5C58  Inborn errors of porphyrin or heme metabolism

Inclusions:

  • defects of catalase and peroxidase

Coded Elsewhere:

  • X-linked sideroblastic anaemia, pyridoxine-responsive (3A72.00)

5C58.0 Disorders of bilirubin metabolism or excretion

Coded Elsewhere:

  • Neonatal hyperbilirubinaemia (KA87)

5C58.00 Crigler-Najjar syndrome

Definition of Crigler-Najjar syndrome: Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis.

5C58.01 Gilbert syndrome

Definition of Gilbert syndrome: Gilbert’s syndrome is an inherited liver disorder characterised by jaundice due to unconjugated hyperbilirubinemia, resulting from a partial deficiency in hepatic bilirubin glucuronosyltransferase activity.

5C58.02 Dubin-Johnson syndrome

Definition of Dubin-Johnson syndrome: Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterised clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.

5C58.03 Progressive familial intrahepatic cholestasis

Definition of Progressive familial intrahepatic cholestasis: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood.

5C58.04 Benign recurrent intrahepatic cholestasis

5C58.0Y Other specified disorders of bilirubin metabolism or excretion

5C58.0Z Disorders of bilirubin metabolism or excretion unspecified

5C58.1 Porphyrias

Definition of Porphyrias: Porphyrias constitute a group of diseases characterised by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. All porphyrias are caused by a deficiency in one of the enzymes of the heme biosynthesis pathway resulting in an accumulation of porphyrins and/or their precursors in the liver or bone marrow. Clinical signs of the disease usually appear in adulthood, but some porphyrias affect children. Porphyrias can be classified according to the main location of the metabolic anomaly. Direct or indirect neurotoxicity may cause neurological manifestations. Transmission of hereditary porphyrias is autosomal and either dominant with weak penetrance or recessive with complete penetrance. Diagnosis is mainly based on the measurement of porphyrins and their precursors in biological samples.

Coded Elsewhere:

  • Liver diseases due to porphyria (5C90.1)

5C58.10 Porphyria cutanea tarda

Definition of Porphyria cutanea tarda: Porphyria cutanea tarda (PCT) is due to an accumulation of uroporphyrins in plasma from blockage of the normal haem synthetic pathway in the liver at the level of uroporphyrinogen decarboxylase (URO-D). The majority of cases are sporadic and frequently associated with iron overload. PCT manifests as skin fragility and blistering in light-exposed skin, particularly on the dorsa of the hands, together with hypertrichosis.

5C58.12 Erythropoietic porphyrias

Definition of Erythropoietic porphyrias: Erythropoietic porphyrias are associated clinically with photosensitivity and biochemically with abnormal accumulation of porphyrins in erythrocytes. They include erythropoietic protoporphyria and the very rare congenital erythropoietic porphyria.

5C58.13 Variegate porphyria

Definition of Variegate porphyria: Variegate porphyria is a form of acute hepatic porphyria characterised by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions (bullous photodermatitis).

5C58.1Y Other specified porphyrias

5C58.1Z Porphyrias unspecified

5C58.Y Other specified inborn errors of porphyrin or heme metabolism

5C58.Z Inborn errors of porphyrin or heme metabolism unspecified

Inborn errors of neurotransmitter metabolism

ICD 11 Code For Inborn errors of neurotransmitter metabolism

  5C59  Inborn errors of neurotransmitter metabolism

5C59.0 Disorders of biogenic amine metabolism

5C59.00 Disorders of catecholamine synthesis

Definition of Disorders of catecholamine synthesis: Any condition caused by failure to correctly synthesize catecholamines. Confirmation is by blood test.

5C59.01 Disorders of pterin metabolism

Definition of Disorders of pterin metabolism: Any condition caused by failure to correctly metabolize pterin.

Coded Elsewhere:

  • Dopa-responsive dystonia (8A02.11)

5C59.0Y Other specified disorders of biogenic amine metabolism

5C59.0Z Disorders of biogenic amine metabolism unspecified

5C59.1 Disorders of gamma aminobutyric acid metabolism

Coded Elsewhere:

  • 4-hydroxybutyric aciduria (5C50.E1)

5C59.2 Disorders of pyridoxine metabolism

Coded Elsewhere:

  • Pyridoxal dependent epilepsy (8A61.00)
  • Pyridoxine dependent epilepsy with antiquitin mutations (8A61.0Y)

5C59.Y Other specified inborn errors of neurotransmitter metabolism

5C59.Z Inborn errors of neurotransmitter metabolism unspecified

Alpha-1-antitrypsin deficiency

Definition of Alpha-1-antitrypsin deficiency: Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum.

ICD 11 Code For Alpha-1-antitrypsin deficiency

  5C5A  Alpha-1-antitrypsin deficiency

Other specified inborn errors of metabolism

ICD 11 Code For Other specified inborn errors of metabolism

  5C5Y  Other specified inborn errors of metabolism

Inborn errors of metabolism unspecified

ICD 11 Code For Inborn errors of metabolism unspecified

  5C5Z  Inborn errors of metabolism unspecified

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