From Big Medical Encyclopedia

TsISTATIONINURYYa (tsistationin - wetting f-Greek uron) — hereditary anomaly of exchange of sulfur-containing amino acids, the main manifestation a cut is lag of the child in intellectual development.

It is for the first time described in 1959 by Harris (N. Harris) and sotr. Frequency of a disease is definitely not established. According to Schneiderman (L. J. Schneiderman, 1967), among persons with undifferentiated mental retardation the frequency of a tsistationinuriya makes 4%.

Assume that the disease is inherited on an autosomal recessive noma to type. Parents of sick children phenotypical are healthy, nevertheless quite often decrease in tolerance to methionine (see) — to the predecessor of a tsistationin is found in them (see) in a chain of biochemical transformations. The disease is connected with existence of the metabolic block in exchange of a tsistationin owing to defect of enzyme of a tsistationaza, the cut is a cofactor niridok-sal-5-phosphate. Accumulation of a tsistationin and methionine in fabrics results. During the day at patients it is removed with urine to 500 mg of a tsistationin (normal — to 10 mg). However in blood tsistationin it is not found. Only after peroral loading methionine possible to register increase it in a blood plasma. Disturbances in c. N of page connect with an imbalance of amino acids.

Pathoanatomical changes at C. are not studied.

The wedge, a picture is characterized by a delay of intellectual development of the child. At nek-ry patients with C. thrombocytopenia, endocrine disturbances in the form of a hypopituitarism come to light (see). However most of researchers regard these disturbances as associated diseases. Seldom C. it is found in clinically healthy children.

The diagnosis is established on the basis of a biochemical research of urine (the tsia-nid-nitroprussiate test, a hromatografichesky research of urine). Differential diagnosis is carried out with a hypovitaminosis of B6, for an exception to-rogo conduct a biochemical research of urine of the child before and after loading rat anti-acrodynia factor; at a hypovitaminosis of Wb administration of this vitamin leads to decrease in maintenance of a tsistationin in urine. C. differentiate with the diseases which are followed by disturbance of outflow of bile, glycogenoses (see), a tyrosinosis (see), at to-rykh increase in renal excretion of a tsistationin is also noted, however there is typical for these diseases a wedge, a picture.

Treatment is carried out by high doses (90 mg a day and more) piri-doksal-5-phosphate (see the Feast idok-saljfosfat) or a pyridoxine (see), providing partial recovery of activity of a tsistationaza. Against the background of treatment renal excretion of a tsistationin decreases to normal figures. Wedge, effect can be reached only at early (in the first months of life) treatment, From ushchestvo at the South pirido ks in to slaughter a tent -

ny forms C., when use of a pyridoxine is not effective.

The forecast for life favorable, however the created mental retardation is irreversible.

Prevention of a disease is based on medicogenetic consultation of families (see. Medicogenetic consultation), in to-rykh there were sick C. Prevention of mental retardation consists in early inspection and treatment of newborns in such families.

Bibliography: Dietary supplement of l I am ii JI. The lake, That bo-

l and V. A. N and In e l t shtsevyu. E. Hereditary diseases at children, page 49, M., 1971; F r i m r t e r G. W. Cystationinuria, sulfite oxidase deficiency, and «B-mercapto-lactate-cysteine disulfiduria», in book: The metabolic basis of inherited disease, ed. by J. B. Stanbury a. o., p. 413, N. Y. a. o., 1972. BB. E. Veltishchev.