Quiz

Inborn Errors of Carbohydrate Metabolism

Deficiency of one of Three Enzymes

Galactokinase (GALK) uridine diphosphate galactose-4-epimerase (GALE)

Clinical Features: Jaundice (400 µmol/L)

Easy Bruisability

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 ______

Elevated blood and urine ______ is one of the clinical features of galactosemia

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 ______

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 ______.

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 ______.

Jaundice is a clinical feature of galactosemia that is caused by the accumulation of ______.