Menkes syndrome
A genetic disorder, also known as kinky hair syndrome, in which the hair is fragile and twisted ("kinky") and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of metabolism that markedly decreases the ability to absorb copper. It can often be diagnosed by looking at the person's hair, which appears to be both whitish and kinked when viewed under a microscope. The syndrome is inherited as an X-linked recessive disorder. Females with the gene on one of their two X chromosomes are normal carriers and each of their sons has a 50% risk of receiving that X and having the disease. The gene for the disease is located in chromosome region Xq12-q13.3. Menkes syndrome is characterized by early retardation in growth, the peculiar hair, and cerebral degeneration beginning within a month or two after birth and progressing rapidly to death in the first or second year of life. The hair is stubby and white. Microscopically it shows twisting, varying diameter along the length of the shaft, and often fractures of the shaft at regular intervals. The basic error underlying the disease involves a zinc-binding protein (ZBP). Because zinc and copper metabolism are interrelated, the error involving ZBP affects copper transport and results in a deficiency of copper, which is needed by enzymes involved in making bone, nerve and other key structures. If administered within the first few months of life, copper histidinate appears effective in increasing the life expectancy of some patients. However, this treatment only increases life expectancy from an average of 3 to 13 years of age, so it can only be considered a palliative, not a cure.

Medical dictionary. 2011.

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  • Menkes syndrome — Menkes syndrome. См. синдром Менкеса. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Menkes disease — Classification and external resources ATP7A ICD 10 E …   Wikipedia

  • Menkes' disease — Men·kes disease meŋ kəz , kə səz n a disorder of copper metabolism that is inherited as a recessive X linked trait and is characterized by a deficiency of copper in the liver and of copper containing proteins (as ceruloplasmin) which results in… …   Medical dictionary

  • Menkes-Krankheit — Klassifikation nach ICD 10 E83.0 Störungen des Kupferstoffwechsels Menkes Syndrom …   Deutsch Wikipedia

  • Menkes-Syndrom — Klassifikation nach ICD 10 E83.0 Störungen des Kupferstoffwechsels Menkes Syndrom …   Deutsch Wikipedia

  • Syndrome, kinky hair — A genetic disorder, also known as Menkes syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of… …   Medical dictionary

  • Syndrome, Menkes — A genetic disorder, also known as the kinky hair syndrome, in which the hair is fragile and twisted ( kinky ) and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error… …   Medical dictionary

  • Syndrome de la corne occipitale — Le syndrome de la corne occipitale est un trouble du métabolisme du cuivre résultant d’une mutation du gène codant l’enzyme responsable du transport intracellulaire du cuivre. Il s’agit de la forme mineure de la maladie de Menkès. Le nom de cette …   Wikipédia en Français

  • Menkes disease — an X linked recessive disorder of copper metabolism caused by mutations in the ATP7A gene (locus: Xq12 q13), which encodes a copper transporter. Features result from dysfunction of copper dependent enzymes and include sparse, brittle, twisted… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

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