Adrenoleukodystrophy D000326

Related MeSH Hierarchy (16)

Diseases [C] » Endocrine System Diseases [C19] » Adrenal Gland Diseases » Adrenal Insufficiency » Adrenoleukodystrophy

Description

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).   MeSH

Approved Indicated Drugs (1)

Phase 4 Indicated Drugs (1)

Phase 3 Indicated Drugs (3)

Phase 1 Indicated Drugs (2)


Organization Involved with Phase 1 Indications (3)

Organization Involved with Other Experimental Indications (2)

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UMLS Data


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