GALACTOSEMIA

From Big Medical Encyclopedia

GALACTOSEMIA (galactosaemia; the galactose + grech, haima blood) — the hereditary disease caused by disturbance of synthesis galaktozo-1-fosfaturidililtransferazy a cut clinically is shown by a hepatomegalia, a cataract, is frequent development of cirrhosis, etc. G. is for the first time described in 1908 by A. Reuss. The detailed description of G. is made by Munson and Turner (H. H. Manson, M. E. Turner). G. retsessivno, the frequency of carriers of a gene of G. — 1 is inherited: 268, sick G. — 1: 70 000 population. At heterozygotes activity gal-1-F-UDF in erythrocytes is also reduced. At administration of milk in connection with incomplete disintegration of lactose (lactose) there is an accumulation in blood and the fabrics of a galactose, galaktozo-1-phosphate and a galaktit possessing toxic action. Development of a cataract is caused, apparently, by excessive hydration and balance upset of electrolytes in a crystalline lens owing to high concentration of a galactose in liquids of an organism and education as a result of it large numbers of a galaktit in a crystalline lens. Pathological processes at G. are caused not only by toxic influence of the specified products, but also their braking action on activity of other enzymes participating in carbohydrate metabolism (phosphoglucomutases and glyukozo-6-fosfatdegidrogenazy), the hypoglycemic syndrome is a consequence of what (see. Hypoglycemia ).

Morfol, changes are most typical in a liver (fatty dystrophy, cirrhosis, an okolodolchaty necrosis) and c. N of page (wet brain, inflation of kernels of an oligodendrogliya in big hemispheres and a cerebellum).

A clinical picture

the First symptoms of G. (vomiting, falling of weight, jaundice) can soon appear after the birth as soon as the child begins to receive milk, later there are a progressing hepatomegalia, ascites, dispeptic frustration, the cataract, an areflexia, a delay of psychomotor development develops further.

At a severe form of G. death comes in several months. At an easy form of a disease the specified symptoms are less expressed, but vomiting, a growth inhibition and development, a hepatomegalia, a cataract are, as a rule, noted.

The symptomless form accidentally is found in families, in to-rykh is or there were sick G. Children from these families develop normally; it is characteristic that they do not love milk and often refuse a breast.

The diagnosis

the Diagnosis at a severe form of G. is established on the basis of a clinical picture; at easy and symptomless forms test with loading a galactose is used.

At laboratory researches come to light: a galaktozuriya, a proteinuria, a hyper aminaciduria, high content of a galactose at low level of glucose in blood, a pathological glycemic curve at loading a galactose and sharp increase of a galaktozuriya, a hypopotassemia, acidosis, a hyperbilirubinemia, positive flokkulyatsionny hepatic tests. The most reliable diagnostic methods are establishment of low activity galaktozo-1-fosfaturidi-liltransferazy in erythrocytes and biopsirovanny fabric, identification of a galactose and the microbiological test (see. Guthrie method ).

Children with intolerance to milk need to be inspected on G.'s presence, as well as children, in families to-rykh cases of are noted.

Differential diagnosis it is carried out with the diseases which are followed by the increased removal of sugar with urine — melituria (see), a diabetes mellitus (see. diabetes mellitus ), cystinosis (see), increase in a liver and jaundices — hepatitis (see), toxoplasmosis (see), glycogenoses (see), etc.

Treatment

Treatment pathogenetic. Children shall receive food without galactose (mix of eggs with sugar, margarine, rice flour, proteins of animal origin, the almond milk enriched with extracts of meat, vegetables); milk is excluded. With age the intolerance of a galactose decreases that is connected with increase in activity of UDF-galpirofosforilaza activating transformation of a galactose in the collateral way. Therapeutic effect of progesterone and testosterone, specifically activating UDF-gal-pirofosforilazu is based on it.

At serious condition - — a regidratation (see. Toxic syndrome ), elimination acidosis (see), zamenny hemotransfusion (see).

Forecast bad at late diagnosis and severe forms of. At early the begun dietary treatment children can normally develop.


Bibliography: Knyazev Yu. A. Hereditary diseases of carbohydrate metabolism at children, Pediatrics, No. 12, page 8, 1970; Harris G. Fundamentals of biochemical genetics of the person, the lane with English, page 158, M., 1973; Farriaux J. - P. La gala-etosemie, in book: Actualites metaboliques en pediatrie, pubi, sous la dir. de Doin-Deren et Cie, ser. 3, p. 245, P., 1969, bibliogr.; The metabolic basis of inherited disease, ed. by J. B. Stanbury a. o., N. Y., 1972; Reuss A. Zuckerausscheidung im Saug-lingsalter, Wien. klin. Wschr., S. 799, 1908.

Yu. A. Knyazev.

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