Beneficial effect of orotic acid upon galactose metabolism of erythrocytes from congenital galactosemia.
نویسندگان
چکیده
In our preliminary report,,) we described that an oral administration of orotic acid to galactosemic patients resulted in a remarkable decrease of urinary galactose and in an improvement of galactose tolerance curve in addition to a noticeable improvement of clinical symptoms and signs of the patients. In this paper, the effect of orotic acid on galactose metabolism investigated in erythrocytes from one of the glactosemic children will be reported.
منابع مشابه
Demonstration of an accumulation of galactose-1-phosphate in the liver from congenital galactosemia.
Congenital galactosemia is an inborn error of metabolism characterized by an inability to metabolize galactose. It has been established1-3) that the disease is due to congenital absence or deficiency in the enzyme, galactose-l-phosphate uridyl transferase, which catalyzes the conversion of galactose-l-phosphate (Gal1-P) to glucosel-phosphate. This enzyme defect may lead to an accumulation of Ga...
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Galactose in serum and galactose-1-phosphate in erythrocytes were measured in six transferase deficient children to determine if these metabolites could be used in detecting transferase deficient galactosemia. In all six children the galactose levels were normal and the galactose-1-phosphate elevated. The galactose level depends on diet and the rate of metabolism to galactose-1-phosphate and, t...
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Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate. Upon consumption of lactose in the neonatal period...
متن کاملQuantitative Bacterial Micro-Assay for Rapid Diagnosis of Galactosemia: Application in Galactosemia Neonatal Screening
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We propose determination of the ratio of the rate of galactose metabolism to glucose metabolism by erythrocytes as a screening test for abnormalities in glucose and galactose metabolism. Packed erythrocytes (20 mul) are incubated for 1 h at 37 degrees C in 0.42 ml of a solution comprising phosphate buffer (pH 7.4), 0.4 mg of glucose, 60 mg of methylene blue, and 50 nCi of either [1-14C]glucose ...
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ورودعنوان ژورنال:
- The Tohoku journal of experimental medicine
دوره 77 شماره
صفحات -
تاریخ انتشار 1962