Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele ...

Cataract formation is delayed or prevented in diabetes and galactosemia by diets rich in fat and protein. This is accomplished in the presence of high levels of blood sugar and lens sugar alcohols. Diabetic rats on a high-fat diet for 235 days had lenses that were clear to the naked eye, whereas control animals developed cataracts in a median time of 65 days. The lens protein level of treated a...

Aneurysmal portohepatic venous shunt is communication between the branches of portal and hepatic veins that shows aneurysmal dilatation. They are rare. However with advances in cross-sectional imaging techniques and increased utilization of imaging modalities, the detection of asymptomatic intrahepatic portosystemic venous shunts has increased. Identification and characterization of the portosy...

A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented. The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test un...

Galactosemia is an inborn error of galactose metabolism caused by mutations in the GALT gene. Though early detection and galactose restriction prevent severe liver disease, affected individuals have persistently elevated biomarkers and often neuro-developmental symptoms. We present a teenage compound heterozygote for a known pathogenic mutation (H132Q) and a novel variant of unknown significanc...

A number of factors may lead to inaccuracy in measurement of capillary blood glucose with a glucometer. Measurement of other carbohydrate molecules such as galactose and fructose along with glucose can potentially be a cause of error. We report a newborn patient who was referred to our hospital with conjugated bilirubinemia, hepatomegaly and high capillary blood glucose levels measured with a g...

A screeningprocedure is described which can be used to separate the great majority of normal personsfrom those with a lack of the enzyme galactose transferase. The method is designed to be used on dried blood spot eluates which remain after a phenylalanine determination has been performed. The optimum conditions for this test are described, and data are presented from a preliminary study of mor...