Disorders of peroxisome biogenesis
ICD-10 E71.51 is a billable code used to indicate a diagnosis of disorders of peroxisome biogenesis.
Disorders of peroxisome biogenesis are a group of rare genetic metabolic disorders characterized by the impaired formation and function of peroxisomes, which are essential organelles involved in 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 deficits, developmental delays, and metabolic dysregulation. The most common conditions associated with peroxisome biogenesis disorders include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. Patients may present with symptoms such as hypotonia, seizures, vision and hearing impairments, and liver dysfunction. Diagnosis typically involves biochemical testing to assess enzyme activity and genetic testing to identify mutations in genes responsible for peroxisome formation. Management is supportive and may include dietary modifications, physical therapy, and symptomatic treatment. Early diagnosis and intervention are crucial for improving outcomes in affected individuals.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with developmental delays and metabolic abnormalities.
Ensure genetic testing results are clearly documented and linked to the diagnosis.
Growth charts, developmental assessments, and symptom tracking.
Infants with hypotonia and seizures requiring metabolic evaluation.
Document all developmental milestones and any interventions provided.
Used when genetic testing is performed to confirm a diagnosis of a peroxisome biogenesis disorder.
Documentation of clinical indications for testing and results.
Genetic specialists should ensure that all relevant family history is included.
Common symptoms include developmental delays, hypotonia, seizures, vision and hearing impairments, and liver dysfunction. The severity and combination of symptoms can vary widely among affected individuals.
