Other peroxisomal disorders
ICD-10 E71.548 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 the peroxisomes, which are cellular organelles responsible for various metabolic processes, including the breakdown of fatty acids and the detoxification of hydrogen peroxide. E71.548 encompasses a range of conditions that do not fall under more specific peroxisomal disorders, such as Zellweger syndrome or X-linked adrenoleukodystrophy. These disorders can lead to a variety of clinical manifestations, including neurological deficits, liver dysfunction, and developmental delays. The underlying enzyme deficiencies can affect the metabolism of very long-chain fatty acids, leading to their accumulation in tissues, which can cause significant damage. Diagnosis often involves biochemical testing, genetic testing, and imaging studies to assess the extent of organ involvement. Management is typically supportive and may include dietary modifications, supplementation, and symptomatic treatment. Given the complexity of these disorders, a multidisciplinary approach is often required for optimal patient care.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with developmental delays, neurological symptoms, or metabolic crises.
Ensure accurate documentation of genetic counseling and testing results.
Growth charts, developmental assessments, and metabolic screening results.
Infants 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.
Documentation of clinical indications for testing and results.
Genetic counseling may be necessary for families.
Common symptoms include developmental delays, neurological deficits, liver dysfunction, and metabolic crises. Symptoms can vary widely depending on the specific disorder.
Diagnosis typically involves biochemical testing, genetic testing, and imaging studies to assess organ involvement and confirm the specific disorder.
