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Menkesov syndróm
Č. záznamu d007706 Dátum 06.06.2025 Typ M - MESH Tematický termín Menkesov syndróm Iný termín Angličtina (Pseudonym) Hypocupremia, Congenital
Angličtina (Pseudonym) Kinky Hair Syndrome
Angličtina (Pseudonym) Menkes Syndrome
Angličtina (Pseudonym) Steely Hair Syndrome
Slovenčina (Pseudonym) hypokuprémia vrodená
Slovenčina (Pseudonym) hypokuprémia kongenitálna
Slovenčina (Pseudonym) kinky hair syndróm
Slovenčina (Pseudonym) Menkesov syndróm (I)
Slovenčina (Pseudonym) steely hair syndróm
Slovenčina (Pseudonym) trichopoliodystrofia
Slovenčina (Pseudonym) Menkesova choroba
Pozri tiež (Skutočné meno) ceruloplazmín
(Skutočné meno) proteínlyzín-6-oxidáza
(Skutočné meno) superoxid dismutáza
(Skutočné meno) ATPázy transportujúce meď
(Novšie záhlavie) ATPázy transportujúce meď
MDT C10.228.140.163.100.540C10.597.606.360.455.687C16.320.322.500.687C16.320.400.525.687C16.320.565.189.540C16.320.565.618.590C17.800.329.968C18.452.132.100.540C18.452.648.189.540C18.452.648.618.590 Poznámka An 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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Počet záznamov: 1