Other group 3 peroxisomal disorders
ICD-10 E71.542 is a billable code used to indicate a diagnosis of other group 3 peroxisomal disorders.
Other group 3 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 conditions include X-linked adrenoleukodystrophy, Zellweger syndrome, and infantile Refsum disease. Patients may exhibit symptoms such as hypotonia, seizures, vision and hearing loss, and liver dysfunction. Diagnosis typically involves biochemical testing to assess enzyme activity, imaging studies, and genetic testing to identify specific mutations. Management is often multidisciplinary, focusing on symptomatic treatment and supportive care, as there is currently no cure for these disorders. Early diagnosis and intervention can significantly improve quality of life and outcomes for affected individuals.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with developmental delays, seizures, or metabolic crises.
Ensure accurate coding based on specific genetic mutations identified.
Growth and developmental assessments, laboratory results, and referral notes.
Infants or children with unexplained neurological symptoms or metabolic disorders.
Documenting the timeline of symptom onset and progression is crucial.
Used when genetic testing is performed to confirm a diagnosis of a peroxisomal disorder.
Document the reason for testing and the specific disorder being investigated.
Genetic specialists should ensure that the testing aligns with clinical findings.
Common symptoms include developmental delays, seizures, hypotonia, vision and hearing loss, and liver dysfunction. The specific symptoms can vary widely depending on the type of peroxisomal disorder.
