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).
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
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
- 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)
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
- Formiminoglutamic aciduria (3A02.Y)
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
- Hartnup disease (5C60)
5C50.4 Disorders of lysine or hydroxylysine metabolism
- Refsum disease (5C57.1)
- Zellweger syndrome (5C57.0)
- Glutaryl-CoA dehydrogenase deficiency (5C50.E1)
5C50.5 Disorders of the gamma-glutamyl cycle
- 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.
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
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria (5C50.AY)
- Ornithine carbamoyltransferase deficiency (5C50.AY)
5C50.A Disorders of urea cycle metabolism
- 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.
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.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
- Hereditary megaloblastic anaemia due to transcobalamin deficiency (3A01.0)
5C50.C Disorders of beta or omega amino acid metabolism
- 4-hydroxybutyric aciduria (5C50.E1)
- Gamma aminobutyric acid transaminase deficiency (5C59.1)
5C50.D Disorders of branched-chain amino acid metabolism
- 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.
- 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.
- 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.
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.
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
Definition of Trimethylaminuria: Trimethylaminuria is a metabolic disorder characterised by a body malodour similar to that of decaying fish.
- 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
- Increased secretion of glucagon (5A42)
- Diabetes mellitus (BlockL2‑5A1)
- hypoglycaemia NOS (5A41)
- Mucopolysaccharidosis (5C56.3)
5C51.0 Disorders of the pentose phosphate pathway
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.
- Fructose malabsorption (5C61.40)
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.
- 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
- Retinal dystrophy in lipid storage disorders (9B71.Y)
5C52.0 Inborn errors of fatty acid oxidation or ketone body metabolism
- 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
- 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
- X-linked ichthyosis (EC20.01)
5C52.10 Disorders of cholesterol synthesis
- 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.
- 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 188.8.131.52) or L-lactate (EC 184.108.40.206). The other two are NAD(P)-dependent enzymes, each acting on either D-lactate (EC 220.127.116.11) or L-lactate (EC 18.104.22.168). 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
- 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.
- 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).
- 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.
- 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.
- Pontocerebellar hypoplasia type 6 (LD20.01)
- Mitochondrial myopathy with sideroblastic anaemia (3A72.0Y)
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.
- 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
- 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.
- 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
- Multiple osteochondromas (LD24.20)
5C54.2 Disorders of multiple glycosylation or other pathways
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
- Xeroderma pigmentosum (LD27.1)
- Calculus of kidney (GB70.0)
5C55.0 Disorders of purine metabolism
- Primary gout (FA25.0)
- Haemolytic anaemia due to adenosine deaminase excess (3A10.1)
- Immunodeficiency due to purine nucleoside phosphorylase deficiency (4A01.1Y)
- Severe combined immunodeficiency T- B- due to adenosine deaminase deficiency (4A01.10)
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
- Hereditary orotic aciduria (3A03.0)
- Haemolytic anaemia due to pyrimidine 5′ nucleotidase deficiency (3A10.Y)
5C55.2 Disorders of nucleotide metabolism
- 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
ICD 11 Code For Lysosomal diseases
5C56 Lysosomal diseases
- Glycogen storage disease due to LAMP-2 deficiency (5C51.3)
- Krabbe disease (8A44.4)
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.
- 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.
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.
- Sialidosis (mucolipidosis type 1) (5C56.21)
- Mucolipidosis type 4 (5C56.0Y)
- Wolman disease (5C56.0Y)
5C56.2Y Other specified glycoproteinosis
5C56.2Z Glycoproteinosis unspecified
- 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).
- 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
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
- 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
- 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
- defects of catalase and peroxidase
- X-linked sideroblastic anaemia, pyridoxine-responsive (3A72.00)
5C58.0 Disorders of bilirubin metabolism or excretion
- 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
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.
- 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.
- 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
- 4-hydroxybutyric aciduria (5C50.E1)
5C59.2 Disorders of pyridoxine metabolism
- 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
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