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).

Synonyms: X-Linked Adrenoleukodystrophy, X-ALD, Siemerling-Creutzfeldt Disease, Melanodermic Leukodystrophy, Leukodystrophy, Melanodermic, Schilder-Addison Complex, X Linked Adrenoleukodystrophy, Adrenoleukodystrophy, Addison Disease and Cerebral Sclerosis, X ALD, Adrenomyeloneuropathy, Schilder Addison Complex, ALD (Adrenoleukodystrophy), X-ALD (X-Linked Adrenoleukodystrophy), Adrenoleukodystrophy, X-Linked, Bronze Schilder Disease, Leukodystrophies, Melanodermic, X ALD (X Linked Adrenoleukodystrophy), Siemerling Creutzfeldt Disease

Instance information

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1991(1983) ,1991; see CEREBRAL SCLEROSIS, DIFFUSE 1983-1990 ,do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS

identifier

D000326