Galactosemia is an autosomal recessive disorder, which caused by a deficiency of one of three enzymes that involved in the metabolism of galactose; galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT) and uridine-diphosphate galactose-4’epimerase (GALE). Clinical manifestations including poor feeding, jaundice, hepatomegaly, vomiting, hypoglycemia, convulsions, failure to thrive...

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...

We report on a female patient affected by galactosemia in whom the diagnosis was obscured by the concomitant presence of manifestations suggesting a cow's milk intolerance. This case exemplifies the problems in reaching a correct diagnosis in patients with metabolic diseases.

Background: Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a deficiency the enzyme galactose-1-phosphate uridyltransferase (GALT). This causes conversion uridine diphosphate- glucose (UDP)-glucose and (Gal-1-P) to glucose-1-phosphate UDP-galactose. The absence this results in accumulation metabolites galactitol Gal-1-P. CG heterogeneous at clinical molecular leve...

UDP-galactose 4'-epimerase (GALE) catalyzes the interconversion of UDP-galactose and UDP-glucose, an important step in galactose catabolism. Type III galactosemia, an inherited metabolic disease, is associated with mutations in human GALE. The V94M mutation has been associated with a very severe form of type III galactosemia. While a variety of structural and biochemical studies have been repor...

Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT). Patients with Duarte galactosemia demonstrate reduced GALT activity and carry one profoundly impaired GALT allele (G) along with a second, partially impaired GALT allele (Duarte-2, D2). Molecular studies reveal at least five sequence changes on D2 all...