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adrenoleukodystrophy

Pronunciation: ă-drē′nō-lū-kō-dis′trŏ-fē

Definition: An X-linked recessive disorder affecting male children, resulting from a defect in long-chain fatty acid metabolism and characterized by chronic adrenocortical insufficiency, skin hyperpigmentation, progressive dementia, spastic paralysis, and other intellectual and neurologic disturbances; results from myelin degeneration in the white matter of the brain. The causative gene maps to Xq and encodes adrenoleukodystrophy protein (ALDP), an ATP-binding transporter located in the peroxisomal membrane. A mild form of ALD affecting older male children, as well as adolescent or adult males is called adrenomyeloneuropathy

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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