Adolescent X-linked adrenoleukodystrophy
ICD-10 E71.521 is a billable code used to indicate a diagnosis of adolescent x-linked adrenoleukodystrophy.
Adolescent 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 of the enzyme adrenoleukodystrophy protein (ALDP). This condition primarily affects males and typically manifests during adolescence, leading to progressive neurological decline, adrenal insufficiency, and various cognitive and behavioral issues. The disorder is caused by mutations in the ABCD1 gene located on the X chromosome, which encodes the ALDP responsible for transporting VLCFAs into peroxisomes for degradation. Clinical symptoms may include behavioral changes, learning difficulties, vision and hearing loss, and motor dysfunction. Diagnosis is often confirmed through biochemical testing showing elevated VLCFAs and genetic testing for ABCD1 mutations. Early intervention is crucial, as treatment options may include dietary management, hormone replacement therapy for adrenal insufficiency, and in some cases, hematopoietic stem cell transplantation. The complexity of managing this condition requires a multidisciplinary approach, involving neurologists, endocrinologists, and genetic counselors.
Detailed neurological assessments and cognitive evaluations.
Patients presenting with behavioral changes, cognitive decline, or motor dysfunction.
Documenting the progression of neurological symptoms and any interventions.
Genetic testing results and family history of X-ALD.
Patients with a family history of X-linked disorders or presenting symptoms suggestive of X-ALD.
Clear documentation of genetic counseling sessions and implications for family members.
Used when confirming a diagnosis of X-ALD.
Documentation of clinical indications for testing and results.
Genetic counseling notes should accompany the testing.
X-linked adrenoleukodystrophy is primarily caused by mutations in the ABCD1 gene, which leads to a deficiency in the adrenoleukodystrophy protein responsible for the metabolism of very long-chain fatty acids.
