En sfingolipidos med drag av både leukodystrofi och Addisons sjukdom. Den är en könsbunden, recessiv sjukdom som debuterar i tonåren eller i vuxen ålder. En mildare form är adrenomyeloneuropati. Neona tal adrenoleukodystrofi är en helt annan sjukdom.
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).
Adrenomyeloneuropati — Addison–Schilders sjukdom — Siemerling–Creutzfeldts sjukdom
Bronze Schilder Disease — Melanodermic Leukodystrophy — Leukodystrophies, Melanodermic — Leukodystrophy, Melanodermic — Siemerling-Creutzfeldt Disease — Siemerling Creutzfeldt Disease — X-ALD — X ALD — Addison Disease and Cerebral Sclerosis — X-Linked Adrenoleukodystrophy — Adrenoleukodystrophy, X-Linked — X Linked Adrenoleukodystrophy — ALD (Adrenoleukodystrophy) — X-ALD (X-Linked Adrenoleukodystrophy) — X ALD (X Linked Adrenoleukodystrophy) — Schilder-Addison Complex — Schilder Addison Complex — Adrenomyeloneuropathy