Other disorders of peroxisome biogenesis
ICD-10 E71.518 is a billable code used to indicate a diagnosis of other disorders of peroxisome biogenesis.
Disorders of peroxisome biogenesis encompass a group of rare genetic metabolic conditions characterized by defects in the formation and function of peroxisomes, organelles responsible for various metabolic processes, including lipid metabolism and the detoxification of reactive oxygen species. These disorders can lead to a range of clinical manifestations, including neurological impairment, hepatic dysfunction, and developmental delays. Patients may present with symptoms such as hypotonia, seizures, and dysmorphic features. The severity and specific symptoms can vary widely depending on the specific enzyme deficiencies involved and the extent of peroxisomal dysfunction. Diagnosis typically involves biochemical testing to assess enzyme activity, imaging studies, and genetic testing to identify mutations in genes associated with peroxisome biogenesis. Management is often multidisciplinary, focusing on symptomatic treatment and supportive care, as there is currently no cure for these conditions.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with developmental delays and metabolic abnormalities.
Ensure accurate coding based on genetic testing outcomes.
Growth charts, developmental assessments, and symptomatology.
Infants with hypotonia and seizures requiring metabolic evaluation.
Document all developmental milestones and neurological assessments.
Used when genetic testing is performed to confirm a diagnosis of a peroxisome biogenesis disorder.
Document the reason for testing and the specific genes tested.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include developmental delays, hypotonia, seizures, and dysmorphic features. The specific symptoms can vary based on the type of disorder and the extent of peroxisomal dysfunction.
