during a period of three years from 1996 to 1998, 124 infants (64 male and 60 female) with an age range of 1-6 months (mean age 1.5 months) with cholestasis were studied. idiopathic neonatal hepatitis was the most common cause of cholestasis, accounting for 48 cases with a rate of 3'8.70% in a total of 124 patients, followed by galactosemia in 29 patients (23.38%) and extrahepatic biliary ...

In the present study a new economic and rapid bacterial micro-assay for simultaneous detection and quantitative measurement of serum galactose was developed. Analysis of the standard curve showed a linearity range for galactose from 2 mg/dL to 180 mg/dL with a regression equation of Y = 0.013X ? 0.083; R² = 0.962. The advantage of the method is its ability to measure serum galactose quantitativ...

Classic galactosemia, a defect of the metabolism of galactose, was one of the earliest defects of intermediary metabolism to be recognized in the mid 20th century (1, 2 ). The disease is caused by a defect of galactose-1phosphate uridyltransferase (GALT), an enzyme central to the Leloir pathway in which galactose is converted into glucose. Galactose is primarily derived from the lactose content...

Electrokinetic probes based on the differential migration of ternary boronate ester complexes permit the selective analysis of micromolar levels of UV-transparent polyol stereoisomers in urine samples via dynamic complexation-capillary electrophoresis that is applicable to single-step screening of in-born errors of sugar metabolism, such as galactosemia.

A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. The younger one later presented with galactosemia. Biopsy of liver on these two patients reveale...

We report a 51-day-old infant with congenital intrahepatic porto-systemic venous shunt associated with galactosemia, who presented with cholestatic jaundice. He was treated with ursodeoxycholic acid, calcium supplements and galactose-free diet. The child was asymptomatic six weeks later.