Number of the records: 1
Menkesov syndróm
Record number d007706 Date 06.06.2025 Type M - MESH Topical term Menkesov syndróm Other term English (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
UDC 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 Note 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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Number of the records: 1