HISTIDINEMIA (a histidine + grech, haima — blood) — the hereditary disease caused by disturbance of exchange of a histidine, which is shown lag in psychological development of the child. It is for the first time described in 1961 Mr. H. Ghadimi et al. It is published apprx. 30 observations. It is inherited on autosomal recessively type.
Disturbances of exchange of a histidine arise owing to deficit of enzyme of a histidase (histidine-ammonia-lyase) which provides turning into urocanic to - that. In an organism along with a histidine in large numbers collect imidazolpirovinogradny, imidazoluksusny and imidazolmolochny to - you what toxic defeat of c is result of. N of page. The quantity of metabolites distalny the block in exchange of a histidine (urocanic, glutaminic to - you, etc.) sharply decreases.
The clinical picture
Approximately at a half of patients is noted considerable lag in intellectual development. Disturbances of the speech, motor are characteristic alalia (see). Nevrol, manifestations are expressed in intentsionny trembling (see), ataxy (see), a convulsive syndrome (see. Spasms ). Decrease in hearing is sometimes noted what in a nek-swarm of degree the delay of intellectual development and defects of the speech can be connected with. Are observed lag in physical. development, hydrocephaly, deformation of a skeleton. Absence in allocations of sweat glands urocanic to - you do skin of patients especially sensitive to action of ultraviolet rays. Internals in patol, process, as a rule, are not involved.
the Diagnosis is based on hromatografichesky identification in blood and urine of a high level of a histidine and imidazolproizvodny connections, low contents glutaminic to - you, absence in urine formiminoglutaminovy to - you after loading a histidine and urocanic to - you in sweat. The differential diagnosis of G. is carried out with similar on a wedge, a picture fenilketonuriya (see).
is Appointed by the protein hydrolyzates deprived of a histidine.
Forecast is defined by weight of defeat of c. N of page.
Bibliography Barashnev Yu. I., Kozlova S. I. and Svyatkina O. B. Gistidinemiya, Vopr. okhr. mat. also it is put., JSIa 3, page 52, 1972; GhadimiH. and. Partington M. W. Salient features of histidinemia, Amer. J. Dis. Child., y. 113, p. 83, 1967; Ghadimi H., Partington M. W. a. Hunter A. A familial disturbance of histidine metabolism, New Engl. J. Med., v. 265, p. 221, 1961.
V. P. Lebedev.