GIPERMETIONINEMIYA (grech, hyper-+ methionine + Greek haima blood) — the strengthening of free methionine in serum (plasma) of blood (more than 0,45 mg of %) caused by excess receipt in an organism of methionine or the metabolic block on the ways of its transformation into cystine, taurine, sulfates. Perry is described (T. L. Perry) and sotr. in 1965.
It is supposed that disturbance of processes of exchange of the sulfur-containing ketonic acids which are formed as a result of interamination of methionine is the cornerstone.
Introduction of high doses of methionine an animal involves development of reaction of an amino-acid imbalance (or an imbalansa); at the same time abnormal products of metabolism (methyl mercaptan, metioninsulfoksid, etc.) have toxic effect on a nervous system, a liver and a pancreas [Shrayer (To. Schreier), 1965]. These reactions are shown by a growth inhibition, the dispeptic phenomena, a depression, fatty dystrophy of a liver, an atrophy of cells of a pancreas.
At a pathoanatomical research cirrhosis, expansion of tubules of kidneys and a nephrocalcinosis, a hyperplasia of islets of Langerhans, an atrophy of the lymphoid device is found.
Of hereditary character is shown at children of the first months of life by a peculiar symptom complex: the general excitement, the increased drowsiness, spasms, an opisthotonos, a hemorrhagic syndrome, the expressed hypoglycemia. Clinical symptoms, defeats of c. N of page are found on 2 — 8th week of life of the child. A peculiar smell of urine and a calla attracts attention. A smell the calla reminds a smell of rancid oil, a smell of urine — a smell of cabbage broth or beer.
At biochemical, a blood analysis reveal strengthening of tyrosine and methionine, and in urine, besides, find alpha ketogamma-methylthiooil to - that. At a renal failure and cirrhoses of a liver secondary G. as manifestation of the general hyper aminoacidemia and disturbance of synthesis of protein can be observed.
Treatment is ineffective. Appoint a diet with restriction of methionine and tyrosine. Secondary G.'s treatment comes down to therapy of a basic disease.
The forecast adverse — children perish at the phenomena of a hepatic coma. At secondary G. the forecast depends on a basic disease.
See also Aminoacidemia .
Bibliography: Badalyan L. O., Tabolin V. A. and In eptishchev Yu. E. Hereditary diseases at children, M., 1971; Mozziconacci P. e. Les maladies mStaboliques des aci des amin6s avec agpyo-ration mentale, p. 228, P., 1968; Perry T. L. a. o. Hypermethioninemia, Pediatrics, v. 36, p. 236, 1965.
BB. E. Veltishchev.