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中英关联术语

肾上腺脑白质失养症

Adrenoleukodystrophy

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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).

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D000326 · MeSH 2026。

Courtesy of the U.S. National Library of Medicine. Annual snapshot; later updates may not be reflected. NLM does not endorse this service.

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