ABCD1 XR unreviewed
X-linked adrenoleukodystrophy
Peroxisomal VLCFA oxidation
Enzyme or protein defect
ALD protein (peroxisomal transporter)
Accumulates or becomes deficient
Very-long-chain fatty acids
Key features
Adrenal insufficiency with progressive demyelination and behavioural change
Management
Steroid replacement; HSCT if early
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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