Podcast
Questions and Answers
Inborn Errors of Carbohydrate Metabolism
Inborn Errors of Carbohydrate Metabolism
Galactosemia
Deficiency of one of Three Enzymes
Deficiency of one of Three Enzymes
Galactose-1-phosphate uridyltransferase (GALT)
Galactokinase (GALK) uridine diphosphate galactose-4-epimerase (GALE)
Galactokinase (GALK) uridine diphosphate galactose-4-epimerase (GALE)
Elevated blood and urine galactose
Clinical Features: Jaundice (400 µmol/L)
Clinical Features: Jaundice (400 µmol/L)
Easy Bruisability
Easy Bruisability
Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose to ______
Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose to ______
Galactokinase (GALK) and uridine diphosphate galactose-4-epimerase (GALE) are two of the three enzymes involved in the deficiency of ______
Galactokinase (GALK) and uridine diphosphate galactose-4-epimerase (GALE) are two of the three enzymes involved in the deficiency of ______
Elevated blood and urine ______ is one of the clinical features of galactosemia
Elevated blood and urine ______ is one of the clinical features of galactosemia
The infants with galactosemia are at risk of developing E. Coli ______
The infants with galactosemia are at risk of developing E. Coli ______
Hereditary fructose intolerance is another inborn error of carbohydrate metabolism that results from the deficiency of ______
Hereditary fructose intolerance is another inborn error of carbohydrate metabolism that results from the deficiency of ______
Inborn Errors of Carbohydrate Metabolism are a group of rare, congenital disorders that affect the body's ability to metabolize ______.
Inborn Errors of Carbohydrate Metabolism are a group of rare, congenital disorders that affect the body's ability to metabolize ______.
Galactosemia is caused by a deficiency of the enzyme ______.
Galactosemia is caused by a deficiency of the enzyme ______.
Fructose – 1,6 – Biphosphate Deficiency (FBP1) is a rare, hereditary disorder that affects the conversion of fructose-1,6-biphosphate to ______.
Fructose – 1,6 – Biphosphate Deficiency (FBP1) is a rare, hereditary disorder that affects the conversion of fructose-1,6-biphosphate to ______.
Glycogen Storage Disease is a rare, congenital disorder that affects the metabolism of ______.
Glycogen Storage Disease is a rare, congenital disorder that affects the metabolism of ______.
Jaundice is a clinical feature of galactosemia that is caused by the accumulation of ______.
Jaundice is a clinical feature of galactosemia that is caused by the accumulation of ______.
