GLITSINEMIYA

From Big Medical Encyclopedia

GLITSINEMIYA (glycinaemia; glycine + Greek haima blood; synonym: glitsinoz, giperglitsinemiya) — the hereditary disease caused by the disturbance of amino-acid exchange which is followed by the increased concentration of glycine in blood (is normal at children up to 2 years does not exceed 3,08 mg of %) and its excess removal with urine. It is inherited on autosomal recessively type.

For the first time G. is described in 1961 by Chaylds (V. Childs) et al. which allocated idiopathic G. with glycinuria (see) and ketosis. In 1965 Mr. Dzherritsen (T. Gerritsen) with soavt, described G. with a glycinuria without ketosis. There are no data on the frequency of a disease in population. Meets very seldom (it is described apprx. only 20 cases) that, perhaps, is connected with early death of the sick child. Death can come also vnutriutrobno.

The etiology and a pathogeny of a disease are not found out. Development of a disease is connected with absence or insufficiency of a glitsinoksidaza (oxidases of L-amino acids; KF 1.4,3. 2.), catalyzing transformation of glycine in glyoxylic to - that with formation of NH 3 and H 2 O 2 .

At patomorfol, a research disturbance of a miyelogenez (especially in a medullary cover) with a typical gistol, the picture status spongiosus is revealed. Sudanophil lipids and crystal accumulations are found in cells of an oligodendrogliya.

The following options of a disease are described: primary glitsinemiya with a glycinuria and a ketosis; primary glitsinemiya with a glycinuria without ketosis with an oksaluriya and without oksaluriya (the oksaluriya is noted at disturbance of metabolism glyoxylic to - you); a secondary glitsinemiya at giperammoniyemiya (see) and methyl-malonic acidemia.

At G. with a glycinuria and a ketosis during the first hours after the birth persistent vomiting, dehydration, ketoacidosis is noted; further there is a disorder of breath, the phenomena of a lethargy are possible. In the next 6 — 8 months the neutropenia, thrombocytopenia, a purpura, a hypogammaglobulinemia, tendency to intercurrent diseases develops. The progressing delay of intellectual development, osteoporosis is noted. There are changes on an ECG. Attacks of acidosis, vomiting amplify at the use of protein in number of more than 0,5 g on 1 kg of weight of the child. Amino acids methionine, a leucine, an isoleucine, valine, threonine have the greatest ketogenic influence.

At, with a glycinuria without ketosis frequent convulsive attacks, a delay of intellectual development, a spastic paraplegia, a hyper tone, an opisthotonos are noted, drowsiness is observed. Development of ketoacidosis, changes from blood, osteoporosis is not noted. For this option G. the gipooksaluriya is considered pathognomonic.

Treatment comes down to restriction for 3 — 4 months of protein to 0,3 g on 1 kg of weight of the child with the subsequent gradual increase. Ketogenic amino acids are at the same time excluded. For improvement of metabolism of glycine cyanocobalamine is appointed, piridoksinony At dehydration and acidosis usual corrective therapy is carried out. The patient with an oksaluriya include magnesium oxide in a complex of treatment, methylene blue, phytin and increase reception of liquid.

Forecast adverse. In literature there are single descriptions of patients who, being on a diet, lived more than 5 — 7 years.

See also Aminoacidemia , Aminoatsiduriya , Acidosis .


Bibliography: Badalyan L. O., Tabolin V. A. and Veltishchev Yu. E. Hereditary diseases at children, M., 1971, bibliogr.; Veltishchev Yu. E. and d river. Metabolism of oxalic acid is normal also at a nephrolithiasis, Urol, and nefrol., No. 4, page 64, 1975, bibliogr.; M and to-to yu with and to V. A. Ancestral features of the person, the lane with English, page 390, M!., 1976, bibliogr.; T a d and To. Hyperglycinemia, Jap. J. Clin. Med., v. 31, p. 2423, 1973.

V. P. Lebedev, M. F. Logachev.

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