Other group 2 peroxisomal disorders
ICD-10 E71.53 is a billable code used to indicate a diagnosis of other group 2 peroxisomal disorders.
Other group 2 peroxisomal disorders encompass a range of rare genetic metabolic conditions characterized by defects in peroxisome biogenesis or function. These disorders can lead to a variety of clinical manifestations, including neurological impairment, developmental delays, and metabolic dysfunctions. Commonly associated enzyme deficiencies include those affecting the metabolism of very long-chain fatty acids, bile acids, and certain amino acids. Patients may present with symptoms such as hypotonia, seizures, and liver dysfunction. Diagnosis typically involves biochemical testing to identify enzyme deficiencies, imaging studies to assess organ involvement, and genetic testing to confirm mutations in peroxisomal biogenesis genes. Management is often multidisciplinary, focusing on symptomatic treatment and supportive care, as there is currently no cure for these conditions. Early diagnosis and intervention can significantly improve the quality of life for affected individuals.
Detailed family history, genetic test results, and clinical findings.
Evaluation of patients with suspected metabolic disorders and family history of genetic conditions.
Ensure comprehensive documentation of genetic counseling and testing outcomes.
Growth and developmental assessments, neurological evaluations, and metabolic screening results.
Assessment of infants and children with developmental delays or unexplained neurological symptoms.
Documenting the timeline of symptom onset and progression is crucial for accurate coding.
Used when genetic testing is performed to confirm a diagnosis of E71.53.
Documentation of clinical indications for testing and results.
Genetic specialists should ensure that all relevant family history is documented.
Common symptoms include developmental delays, hypotonia, seizures, liver dysfunction, and neurological impairment. The specific symptoms can vary widely depending on the type of peroxisomal disorder.
Diagnosis typically involves a combination of clinical evaluation, biochemical testing to assess enzyme activity, and genetic testing to identify mutations in peroxisomal biogenesis genes.
