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Menkesov syndróm

  1. Record numberd007706
    Date06.06.2025
    TypeM - MESH
    Topical termMenkesov syndróm
    Other termEnglish (Pseudonym) Hypocupremia, Congenital
    English (Pseudonym) Kinky Hair Syndrome
    English (Pseudonym) Menkes Syndrome
    English (Pseudonym) Steely Hair Syndrome
    Slovak (Pseudonym) hypokuprémia vrodená
    Slovak (Pseudonym) hypokuprémia kongenitálna
    Slovak (Pseudonym) kinky hair syndróm
    Slovak (Pseudonym) Menkesov syndróm (I)
    Slovak (Pseudonym) steely hair syndróm
    Slovak (Pseudonym) trichopoliodystrofia
    Slovak (Pseudonym) Menkesova choroba
    See also(Skutočné meno) ceruloplazmín
    (Skutočné meno) proteínlyzín-6-oxidáza
    (Skutočné meno) superoxid dismutáza
    (Skutočné meno) ATPázy transportujúce meď
    (Later heading) ATPázy transportujúce meď
    UDCC10.228.140.163.100.540C10.597.606.360.455.687C16.320.322.500.687C16.320.400.525.687C16.320.565.189.540C16.320.565.618.590C17.800.329.968C18.452.132.100.540C18.452.648.189.540C18.452.648.618.590
    NoteAn inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
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Number of the records: 1  

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