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Acronym ALD  +
Created 5 October 2007  +
CurationStatus uncurated  +
Definition An X-linked recessive disorder characteriz 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). ATP-BINDING CASSETTE TRANSPORTERS) (MeSH).
Id birnlex_12527  +
Label Adrenoleukodystrophy  +
Modification dateThis property is a special property in this wiki. 24 October 2009 04:06:18  +
ModifiedDate 24 October 2009  +
SuperCategory Hereditary Central Nervous System Demyelinating Diseases  +
Synonym Schilder-Addison Complex  +, X-Linked Adrenoleukodystrophy  +, Adrenomyeloneuropathy  +, ALD  +
Categories Hereditary Central Nervous System Demyelinating Diseases
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Resource:Kennedy Krieger Institute: Diagnoses/Disorders +, Resource:X-linked Adrenoleukodystrophy Database + Keywords


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