Peroxisomal disorders
ICD-10 E71.5 is a billable code used to indicate a diagnosis of peroxisomal disorders.
Peroxisomal disorders are a group of inherited metabolic conditions characterized by the dysfunction of peroxisomes, which are cellular organelles responsible for various metabolic processes, including the breakdown of fatty acids and the detoxification of hydrogen peroxide. These disorders can lead to the accumulation of very long-chain fatty acids and other toxic metabolites in the body, resulting in a range of clinical manifestations. Common symptoms include neurological deficits, developmental delays, liver dysfunction, and skeletal abnormalities. The severity and specific symptoms can vary widely depending on the type of peroxisomal disorder, which includes conditions such as Zellweger syndrome, X-linked adrenoleukodystrophy, and others. Diagnosis typically involves biochemical testing, genetic testing, and imaging studies to assess organ function and structural abnormalities. Early diagnosis and intervention are crucial for managing symptoms and improving quality of life.
Detailed family history, genetic test results, and clinical findings.
Evaluation of patients with suspected metabolic disorders and genetic counseling.
Ensure accurate coding based on genetic testing outcomes and family history.
Growth and developmental assessments, neurological evaluations, and metabolic screening results.
Management of infants and children presenting with developmental delays or metabolic crises.
Documenting the timeline of symptom onset and developmental milestones is crucial.
Used when a patient presents with symptoms suggestive of a peroxisomal disorder.
Document clinical indications for testing and results.
Genetic counseling may be necessary for families.
Common symptoms include developmental delays, neurological deficits, liver dysfunction, and skeletal abnormalities. The specific symptoms can vary widely depending on the type of disorder.
Diagnosis typically involves biochemical testing to measure fatty acid levels, genetic testing to identify mutations, and imaging studies to assess organ function.
