Other X-linked adrenoleukodystrophy
ICD-10 E71.528 is a billable code used to indicate a diagnosis of other x-linked adrenoleukodystrophy.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder characterized by the accumulation of very long-chain fatty acids (VLCFAs) due to a deficiency in the enzyme acyl-CoA synthetase. This condition primarily affects the adrenal glands and the nervous system, leading to a variety of symptoms including adrenal insufficiency, progressive neurological decline, and behavioral changes. The disorder is caused by mutations in the ABCD1 gene located on the X chromosome, which is responsible for the transport of VLCFAs into peroxisomes for degradation. The clinical presentation can vary widely, with some individuals experiencing a childhood form that leads to rapid neurological deterioration, while others may have a milder adult-onset form. Diagnosis is typically confirmed through biochemical testing to measure VLCFA levels and genetic testing to identify mutations in the ABCD1 gene. Management of X-ALD may include hormone replacement therapy for adrenal insufficiency and supportive care for neurological symptoms. Early diagnosis and intervention are crucial for improving outcomes in affected individuals.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with neurological symptoms and a family history of X-linked disorders.
Ensure accurate documentation of genetic counseling and testing outcomes.
Neurological assessment findings, imaging results, and treatment plans.
Patients with progressive neurological decline and behavioral changes.
Document the timeline of symptom onset and progression for accurate coding.
Used when confirming a diagnosis of X-ALD.
Document the reason for testing and results.
Genetics specialists should ensure comprehensive family history is included.
X-linked adrenoleukodystrophy is primarily caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids due to a deficiency in the enzyme responsible for their breakdown.
