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Results for “GALACTOSEMIA”

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At least 307 records · Page 17Linked to original sources
PubMed1977

Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.

In 36 heterozygotes with Gal-1-PUT deficiency and 3 heterozygotes with galactokinase deficiency galactitol (and galactose) was determined in the urine 2 and 4 h after an intravenous injection of 350 mg galactose/kg body weight (maximum dosis in adults 16 g). For the sake of comparison 10 healthy children and 5 adults, also 4 homozygotes with Gal-1-PUT deficiency and one sick child with galactokinase deficiency were included in this study. The heterozygotes with Gal-1-PUT deficiency demonstrated the same galactitol excretion as the healthy probands, while heterozygotes with galactokinase deficiency excreted a four-fold higher quantity of galactitol than the healthy and heterozygous probands of Gal-1-PUT deficiency. The child with the galactokinase deficiency excreted galactitol for a period of more than 24 h. These results are discussed.

Galactose↗
PubMed1991

Galactosemia: screening and diagnosis.

Galactose is normally metabolized to glucose through the coordinated activities of three enzymes: galactokinase, galactose-1-phosphate uridyl transferase (GALT), and uridine diphospho-glucose 4-epimerase (epimerase). High concentrations of galactose and their metabolites are toxic to mammals. Hereditary deficiencies of galactokinase and of GALT and perhaps rarely of epimerase cause clinical disorders that can be prevented by early recognition and institution of a galactose-free diet. The genetics of disorders of galactose metabolisms and the methods used currently for their detection are reviewed. Future prospects in the diagnosis of these disorders are discussed.

Galactosemias↗
PubMed1991

Simultaneous determination of gluconolactone, galactonolactone and galactitol in urine by reversed-phase liquid chromatography: application to galactosemia.

A reversed-phase liquid chromatographic assay was developed for the specific evaluation of metabolic by-products in the urine of galactosemic patients and based on the simultaneous determination of gluconolactone, galactonolactone and galactitol. The procedure involved a lyophilization step and the formation of phenylisocyanate derivatives, followed by injection directly into the chromatograph. Analytical results showed good selectivity, linearity, precision and accuracy. The method enabled the detection of levels as low as 0.05-0.1 ng, and compared favourably with other published techniques for the estimation of aldonic acids in biological fluids.

Chromatography, High Pressure Liquid↗