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Genetics · Genetics / Peroxisomal disorders

X-linked adrenoleukodystrophy syndrome

also: X-linked adrenoleukodystrophy

X-linked peroxisomal disorder with demyelination and adrenal insufficiency.

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
Alternative names & eponyms
X-linked adrenoleukodystrophy

Etiology & mechanism

ABCD1 defect causing very long-chain fatty acid accumulation.

Gene(s) involved (1)

Symptoms & signs (5)

In plain terms, someone with X-linked adrenoleukodystrophy syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

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Overlapping symptoms

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