X-linked adrenoleukodystrophy, unspecified type
ICD-10 E71.529 is a billable code used to indicate a diagnosis of x-linked adrenoleukodystrophy, unspecified type.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder characterized by the accumulation of very long-chain fatty acids (VLCFAs) in the body due to a deficiency in the enzyme adrenoleukodystrophy protein (ALDP). This condition primarily affects males and is linked to mutations in the ABCD1 gene located on the X chromosome. The clinical manifestations of X-ALD can vary widely, ranging from adrenal insufficiency to progressive neurological decline. Patients may present with symptoms such as behavioral changes, cognitive impairment, and motor dysfunction, often leading to severe disability. The unspecified type indicates that the specific clinical presentation or subtype has not been determined, which can complicate diagnosis and management. Early identification through newborn screening and genetic testing is crucial for effective intervention and management of symptoms. The condition is part of a broader category of metabolic disorders, particularly those involving lipid metabolism, and requires a multidisciplinary approach for optimal care.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with neurological symptoms and a family history of X-ALD.
Ensure accurate documentation of genetic counseling and testing outcomes.
Neurological assessments, imaging studies, and symptomatology.
Patients with progressive neurological decline and behavioral changes.
Document the timeline of symptom progression and any interventions.
Used when confirming a diagnosis of X-ALD.
Document the reason for testing and results.
Genetics specialists should ensure comprehensive family history is included.
The unspecified type indicates that the specific clinical presentation or subtype of X-ALD has not been determined, which can affect treatment and management strategies.
