It occurs due to recessive mutations in the galactose-1-phosphate uridylyltransferase (GALT) gene. One of the main alterations caused by GALT deficiency is the accumulation of galactose 1-phosphate (Gal-1P) in cells. Studies have suggested that Gal-1P exerts cellular toxicity, possibly by ...
doi:10.1203/00006450-196705000-00085Harris, Ruth CIsbell, Stanley VPediatric ResearchHARRIS,R. C. and ISBELL,S.V. : Galactose-l- phosphate accumulation in red cells of a neonate. Abstr. Soc.Pediat. Res.; Pediat. Res. 1: 200 (1967)....
The defect leads to the accumulation of galactose 1-phosphate. Transferrin hypoglycosylation in these patients may be attributable to direct inhibition of galactosyltransferase activity by the accumulated galactose 1-phosphate or to an effect on the formation of UDP-galactose, the donorsubstrate in the...
Gal-1-P accumulation has been associated with a reduction in cellular phosphate levels as well as a decrease in ATP [95,96]. Additionally, it may act as an inhibitor of several enzymes of glucose metabolism in vitro such as glucose-6-phosphatase, glucose-6-phosphate dehydrogenase, phosphoglucom...
galactose exposure and galactose-1-phosphate (gal-1P) accumulation, tested the impact of age, and searched for potential anatomical defects in brain and ... EL Ryan,B Duboff,MB Feany,... - 《Disease Models & Mechanisms》 被引量: 25发表: 2012年 Effects of temporary low-dose galactose sup...
Regardless, the mutant's epimerase defect ultimately results in the accumulation of such intermediary products like galactose 1-phosphate and UDP-galactose, which consequently causes lysis of the mutant cells. The resultant vaccine is subsequently effective enough to elicit an immunologic response while ...
Glucose-1-phosphate will then enter the glycolytic pathway for energy production. Deficiency of the enzyme GALT in galactosemic patients leads to the accumulation of D-galactose-1-phosphate. Relationship to lactose Galactose is a monosaccharide. When combined with glucose (monosaccharide), through a ...
Determination of Gal-1-P was perfor med by measuring the ammount of /C/ Glu 1-P formed in the reaction: UDP-/C/ Glu+Gal-1-P UDPGal +/C/Glu-1-P, in the presence of exogenous enzyme hexose-1-phosphate uridyltranferase. The ammount of /C/Glu-1-P is a measure of the ammount...
(GALT), anenzymepresent in kidney, liver, and red cells, with the accumulation of galactose-1-phosphate as a toxic intermediate. Other features include renal tubular damage, cataracts, anddevelopmental delay. Symptoms develop when a milk diet is introduced, as lactose is converted to galactose ...
Les tous premiers stades de la cataracte expérimentale par surcharge en galactose sont caractérisés par une accumulation de galactose-1-phosphate et l'UDP-galactose. Par contre, l'UDP-glucose et le glycogène sont considérablement diminués. C'est surtout l'activité de PUDPgal-épimérase qu...