ICD 10 CM E77.8 | Description & Clinical Information
ICD 10 E77.8 describes a category of genetic metabolic disorders that arise from the deficiency or inactivation of proteins or enzymes responsible for the breakdown or transportation of complex carbohydrates, resulting in neurodegenerative changes and other clinical manifestations, and is used when the provider documents a type of disorder that is not represented by any other code.
Official Description Of E77.8
The ICD 10 CM book defines ICD 10 code E77.8 as:
When To Use E77.8
The diagnosis describes by the ICD-10-CM code E77.8 refers to a group of disorders affecting glycoprotein metabolism. These disorders result from an abnormality in the processing of glycoproteins, which are essential molecules composed of sugars or carbohydrates and proteins. The signs and symptoms of glycoprotein metabolism disorders vary depending on the specific type and severity of the condition. However, most of these disorders are progressive and can lead to a range of health problems.
Individuals with these disorders may experience abnormalities in bone development or joint disorders, brain damage, intellectual disability, dementia, seizures, jerky uncoordinated movements, spasticity, increased or decreased muscle tone, and enlargement of the liver and spleen. Additionally, heart enlargement or an irregular heart rate, ophthalmological changes, and distinct facial features that include a flattened face, flat nasal bridge, and large forehead may also occur.
Healthcare providers can diagnose glycoprotein metabolism disorders based on a combination of a patient’s medical history, signs and symptoms, and physical examination. The diagnostic process typically includes microscopic analysis of blood cells and urine for enzymes, proteins, and metabolic byproducts, as well as liver and kidney function tests, genetic testing, and newborn screening. Additional diagnostic studies and procedures may include skeletal X-rays, echocardiograms, ultrasounds, and ophthalmological exams.
The treatment for glycoprotein metabolism disorders primarily focuses on providing symptomatic relief and supportive care with physical and occupational therapy. However, treatment may vary depending on the specific type of disorder and associated conditions. Enzyme replacement therapy, hematopoietic stem cell transplantation, and gene therapies are also being investigated.
Enzyme replacement therapy is a type of treatment that aims to replace the missing or defective enzyme in the patient’s body. It involves intravenous delivery of artificial enzymes to the bloodstream to help break down the glycoproteins. Hematopoietic stem cell transplantation is a procedure that aims to replace damaged cells with healthy cells from a donor’s umbilical cord blood or bone marrow. This procedure can help individuals produce enzymes essential for glycoprotein metabolism.
Gene therapy is a promising new treatment that aims to replace or correct defective genes that cause glycoprotein metabolism disorders. In this treatment, a healthy copy of the defective gene is introduced into the patient’s cells to correct the underlying genetic cause of the disorder.
In conclusion, glycoprotein metabolism disorders are a group of genetic diseases that can lead to a range of health problems. Early diagnosis and treatment are essential for managing symptoms and preventing complications. Healthcare providers can use various diagnostic tests to determine the specific type of disorder and create a personalized treatment plan for each individual. While there are currently no cures for these disorders, enzyme replacement therapy, hematopoietic stem cell transplantation, and gene therapies are significant advances in treatments that can improve an individual’s quality of life.
