Number of the records: 1  

adrenoleukodystrofia

  1. Record numberd000326
    Date06.06.2025
    TypeM
    Topical termadrenoleukodystrofia
    Other termEnglish (Pseudonym) Adrenomyeloneuropathy
    English (Pseudonym) Schilder-Addison Complex
    English (Pseudonym) X-Linked Adrenoleukodystrophy
    Slovak (Pseudonym) adrenomyeloneuropatia
    Slovak (Pseudonym) Schilderov-Addisonov komplex
    Slovak (Pseudonym) adrenoleukodystrofia viazaná na X chromozóm
    Slovak (Pseudonym) X-ALD
    See also(Skutočné meno) ATP-viažuce kazetové transportéry
    (Later heading) ATP-viažuce kazetové transportéry
    UDCC10.228.140.163.100.084C10.228.140.163.100.362.250C10.228.140.695.625.250C10.314.400.250C10.597.606.360.455.124C16.320.322.500.124C16.320.400.525.124C16.320.565.189.084C16.320.565.189.362.250C16.320.565.663.100C18.452.132.100.084C18.452.132.100.362.250C18.452.648.189.084C18.452.648.189.362.250C18.452.648.663.100C19.053.500.270
    NoteAn 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).
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Number of the records: 1  

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