X-linked adrenoleukodystrophy syndrome

Also known as: X-linked adrenoleukodystrophy

X-linked peroxisomal disorder with demyelination and adrenal insufficiency.

Medical specialty: Genetics
Subspecialty: Genetics / Peroxisomal disorders
Sex & age distribution: Male: affected, X-linked; Female: carriers, late myeloneuropathy; Children: yes, cerebral form at 4–10 years
Gene(s) involved: ABCD1

Etiology & mechanism

ABCD1 defect causing very long-chain fatty acid accumulation.

Gene(s) involved (1)

ABCD1

Symptoms & signs (5)

adrenal insufficiencybehavioral changecognitive declinespastic paraparesisvisual loss

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