BACKGROUND Classic galactosemia (OMIM 230400) is an inherited disorder in the metabolism of galactose caused by deficiency of the enzyme galactose 1-phosphate uridyl transferase (EC 2.7.7.12). Galactosemia leads to accumulation of galactose and galactose 1-phosphate (gal-1-P) in blood and tissues and, if untreated, produces neonatal death or severe mental retardation, cirrhosis of the liver, an...

The metabolism of galactose in Escherichia coli proceeds via conversion of galactose to glucose-i-phosphate by reactions catalyzed by the enzymes galactokinase, galactose-l-phosphate uridyl transferase, and UDPgalactose-4-epimerase.1 In addition to these reactions specific to galactose metabolism, the ability of the bacteria to utilize galactose depends on the production of catalytic amounts of...

Classical Galactosemia is an autosomal recessive disorder of galactose metabolism caused by severe reduction or absence of the galactose-1-phosphate uridyl transferase (GALT) enzyme. Till date, no reports are available on clinical and molecular spectrum of galactosemia from Indian population. The characterization of underlying GALT gene lesions was performed in 55 unrelated galactosemia patient...

Five hundred patients undergoing cataract surgery were prospectively examined, and 46 Caucasian patients were found to have strictly idiopathic cataracts severe enough to warrant surgery on or before age 55. In a masked fashion we determined the activity of galactokinase (GK) and galactose-1-phosphate uridyl transferase (GPUT) in these patients as well as on 53 age matched controls. With respec...

Classic Galactosemia (CG) is a rare, autosomal recessive disease where galactose not metabolized properly due to severe deficiency or absence of the GALT enzyme (galactose-1-phosphate uridyl transferase). At abnormally high levels, becomes an aberrant substrate for aldose reductase, resulting in conversion abnormal and toxic metabolite, galactitol. Newborn screening implementation galactose-res...

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...

Galactosemia is an autosomal recessive disorder of Galactose metabolism, characterized by inability to metabolize galactose. Three enzymes are principally involved in the metabolic conversion of galactose to glucose: a galactose specific kinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate galactose-4-epimerase (GALE). On the basis of defective enzyme the disea...

hydroxyproline level when the alkaline phosphatase level is of the order found in this patient. Further evidence of normal bone metabolism was obtained from the normal hydroxyproline excretion. There was no laboratory evidence to suggest hyperparathyroidism. The normal galatose-l-phosphate uridyl transferase level ruled out galactosaemia. Though a diagnosis of glycogen storage disease was consi...

Case History. The patient presented at age four weeks with abdominal distension secondary to ascites and hepatosplenomegaly. She was not jaundiced. Reducing sugars were detected in her urine and the diagnosis of galactosaemia was confirmed by finding low levels in the erythrocytes of galactose -1 phosphate uridyl transferase (0.04 units/g Hb, normal range 14-25 units/g Hb) and an intermediate v...