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Inborn error of carbohydrate metabolism

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Amna Sheikh

The document discusses six major inborn errors of carbohydrate metabolism: glycogen storage disease, congenital galactosaemia, galactokinase deficiency, essential fructosuria, hereditary fructose intolerance, and essential pentosuria. It provides brief descriptions of each disorder and notes that the detection methods for these errors include analyzing carbohydrates in urine using reagent strip tests, Clinitest, Acetest, Rothera's test, and Bial's Test for Pentoses.

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Inborn Error Of Carbohydrate Metabolism Clinical pathology presentation Presented by Amna Sahar
Inborn error of carbohydrate metabolism
Inborn error of carbohydrate metabolism
Inborn error of carbohydrate metabolism
Major inborn errors of carbohydrates metabolism are : • Glycogen storage disease • Congenital galactosaemia • Galactokinase deficiency • Essential fructosuria • Hereditary fructose intolerance • Essential pentosuria
1. Glycogen storage disease
Inborn error of carbohydrate metabolism
Inborn error of carbohydrate metabolism
Inborn error of carbohydrate metabolism
Inborn error of carbohydrate metabolism
Inborn error of carbohydrate metabolism
2. Congenital Galactosaemia
Inborn error of carbohydrate metabolism
Inborn error of carbohydrate metabolism
3. Galactokinase Deficiency
Inborn error of carbohydrate metabolism
4. Essential Fructosuria
Inborn error of carbohydrate metabolism
5. Hereditary Fructose Intolerance
Inborn error of carbohydrate metabolism
6. Essential Pentosuria
Inborn error of carbohydrate metabolism
Detection Methods • Analysis Of Carbohydrates In Urine • Reagent strip glucose oxidase test • Clinitest • Acetest • Rothera’s test • Bial’s Test for Pentoses
Inborn error of carbohydrate metabolism

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Inborn error of carbohydrate metabolism