GIPERVALINEMIYA (Greek hyper-+ valine + grech, haima blood) — the hereditary disease caused by disturbance of exchange of amino acid of valine, which is shown lag in physical development and psychological disturbances. It is inherited on autosomal recessively type; it is for the first time described by Vada, Tada and Minagava (Y. Wada, To. Tada, A. Minagawa) in 1963.
Deficit of the enzyme of valinetransferase catalyzing transformation of valine into an alpha keto - isovalerianic to - that is the cornerstone of a disease. Interamination of other amino acids with a branched chain (a leucine, an isoleucine) is not broken. Owing to the euzymatic block concentration of valine in blood (more than 3 mg of %) and its allocation with urine increases. At the same time the level of alpha ketonic acids in blood and urine does not change.
Clinical picture It is shown in the first months of life by vomiting, dehydration of an organism and development of a coma. Further the hypotrophy develops, the symptomatology — a nystagmus, the general hypomyotonia, a tendinous hyperreflexia, hyperkinesias, convulsive attacks appears nevrol.
With age signs of lag in mental development come to light.
The diagnosis is based on data of hromatografichesky identification of the increased content of valine in blood and its excretion with urine. Differentiate G. with an arginineamber aminoaciduria (see. Aminoatsiduriya arginineamber ), giperammoniyemiya (see), a giperglitsinemiya (see. Glitsinemiya ), dekarboksilazny insufficiency (see), lizinemiya, tsitrullinemiy.
Treatment: a diet with restriction of valine.
Forecast adverse. Most of patients perishes at early children's age.
Bibliography: U. D a n with i s J. and. lake of Hyperva-linemia, A defect in valine transamination, Pediatrics, v. 39, p. 813, 1967; The metabolic basis of inherited disease, ed. by J. B. Stanbury a. o., p. 429, N. Y., 1972; W a d a Y. o. Idiopathic hypervalinemia, Tohoku J. exp. Med., v. 81, p. 46, 1963.
V. P. Lebedev.