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