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adrenoleukodystrofia

  1. Subject h.adrenoleukodystrofia
    Subject h.Adrenoleukodystrophy
    Entry termsadrenomyeloneuropatia
    Schilderov-Addisonov komplex
    adrenoleukodystrofia viazaná na X chromozóm
    X-ALD
    English X referencesAdrenomyeloneuropathy
    Schilder-Addison Complex
    X-Linked Adrenoleukodystrophy
    Scope note in EnglishAn 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).
    See also reference (FX) in Slovak ATP-viažuce kazetové transportéry
    See also reference (FX) in English ATP-Binding Cassette Transporters
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    (1) - MeSH descriptor
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Number of the records: 1  

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