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Congenital type I tyrosinemia

Written by Ivanova O.N., Gurinova E.E., Sukhomyasova A.L.

  Индекс УДК: 616‑056.7:575.224.2:577.112.3 | Страницы: 107-108 | Полный текст статьи. PDF файл | Открыть PDF 

Аннотация:

Type I tyrosinemia is a rare congenital disease determined as a disturbance in the tyrosine exchange caused by a genetically predisposed deficit of fumarylacetoacetate hydrolase. This disease is known to proceed very severely. More than half of the children does not live to be one year of age. The earlier stage of the disease intensifies at the age of 6 months and up, and is characterised by subacute course. Symptoms of liver and kidney lesions, as well as psychomotor retardation prevail in the clinical picture of the disease. Four cases of this disease have been confirmed in Russia. The paper describes one case of type I tyrosinemia with early clinical symptoms diagnosed in the Republic of Sakha Yakutia after an integrated examination and molecular genetic testing.

Ссылки на авторов:

O.N. Ivanova
Medical Institute of North-Eastern Federal University named after M.K. Ammosov (27 Oyunskogo St. Yakutsk 677000 Russian Federation)
E.E. Gurinova, A.L. Sukhomyasova
Republican Hospital No. 1 (4 Sergelyakhskoe Shosse St. Yakutsk 677000 Russian Federation)

  1. Sorokina T.V., Serebryannikova T.E., Baydakova G.V. [et al.] The case of acute tyrosinemia type 1 in newborn // Pediatrics. 2008. Vol. 87, No. 4. P. 148–150.
  2. Temina P.A., Kazantseva L.Z. Hereditary disorders in children’s neuropsychic development. M.: Meditsina, 2001. 432 p.
  3. Demers S.I., Phaneuf D., Tangua R.M. Heredity tirosinemia type 1: strong assosiatins with haplotype 6 in French Canadian permits simple carrier detection and prenatal diagnosis // American Journal Humany Genetics. 1994. Vol. 55. P. 327–333.
  4. King L.S., Trahms C., Scott C.R. Tirosinemia type 1 // American Journal Humany Genetics. 2011. Vol. 34. P. 677–687.

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