DeCS Server - List Exact Term

Search on:	X-LINKED ADRENOLEUKODYSTROPHY
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DeCS

Descriptor English:

Adrenoleukodystrophy

Descriptor Spanish:

Adrenoleucodistrofia

Descriptor Portuguese:

Adrenoleucodistrofia

Synonyms English:

Adrenomyeloneuropathy
Schilder-Addison Complex
X-Linked Adrenoleukodystrophy

Tree Number:

Definition English:

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Indexing Annotation English:

History Note English:

1991(1983)

Allowable Qualifiers English:

Record Number:

328

Unique Identifier:

D000326

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