Galactosemia, or Galactose Diabetes

Why do cataracts appear in cases of diabetes or galactosemia?

e origins of cataracts can be very diverse. It is nevertheless quite clear that in many cases cataracts occur as a consequence of changes in the metabolism of carbohydrates. In this sense, diseases such as diabetes and galactosemia can initiate the process of cataractogenesis due to an excess of sugars in the blood and in the aqueous humour. e lens can use carbohydrates by means of three metabo...

Galactosemia screening by simultaneous blood spot quantification of galactose and galactose 1-phosphate.

Simultaneous Quantitative Galactose-1-Phosphate and Blood for the Diagnosis of Estimation of Galactose in Galactosemia

FUJIMURA, Y., KAWAMURA, M. and NARUSE, H. Simultaneous Quantitative Estimation of Galactose-1-Phosphate and Galactovve in Blood for the Diagnosis of Galactosemia. Tohoku J. exp. Med., 1982, 137 (3), 28°-295 A new microfluorometrical simultaneous assay method of galactose-l-phosphate and galactose in blood discs was devised by use of alkaline phosphatase and fl-galactose dehydrogenase. Our metho...

Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.

BACKGROUND Duarte galactosemia (DG) is frequently detected in newborn-screening programs. DG patients do not manifest the symptoms of classic galactosemia, but whether they require dietary galactose restriction is controversial. We sought to assess the relationships of selected galactose metabolites (plasma galactose, plasma galactitol, erythrocyte (RBC) galactitol, RBC galactonate, and urine g...

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...