Other peroxisomal disorders
ICD-10 E71.54 is a billable code used to indicate a diagnosis of other peroxisomal disorders.
Peroxisomal disorders are a group of inherited metabolic conditions caused by defects in peroxisome function, leading to the accumulation of very long-chain fatty acids and other toxic metabolites. These disorders can manifest in various ways, including neurological impairment, liver dysfunction, and developmental delays. Other peroxisomal disorders encompass a range of conditions not specifically classified under more common peroxisomal disorders like Zellweger syndrome or X-linked adrenoleukodystrophy. Patients may present with symptoms such as hypotonia, seizures, and vision problems. Diagnosis typically involves biochemical testing to assess enzyme activity and imaging studies to evaluate organ involvement. Genetic testing may also be utilized to confirm specific enzyme deficiencies or mutations. Management is symptomatic and supportive, focusing on improving quality of life and addressing specific complications. Early diagnosis and intervention are crucial for optimizing outcomes in affected individuals.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with developmental delays or unexplained metabolic symptoms.
Ensure genetic counseling notes are included to support the diagnosis.
Growth charts, developmental assessments, and laboratory results.
Infants with hypotonia and seizures requiring metabolic workup.
Documenting the timeline of symptom onset is critical for accurate coding.
Used when a patient is suspected of having a peroxisomal disorder based on clinical presentation.
Document the clinical rationale for testing and any relevant family history.
Genetic counseling may be necessary to interpret results.
Common symptoms include developmental delays, hypotonia, seizures, and liver dysfunction. The specific symptoms can vary widely depending on the type of peroxisomal disorder.
