Carbohydrate Metabolism Disorders Flashcards by Denisse Tiangco | Brainscape

Q

Fructokinase deficiency
Autosomal recessive

Elevated fructose and metabolites in urine and blood

A

Fructosuria

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Q

Elevated galactose-1-phosphate uridyltransferase deficiency in urine and blood

1 of 5 newborn screening test

Autosomal recessive

A

Galactosemia

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Q

Liver failure
Renal tubular dysfunction
Cataracts

Derranged electrolytes

A

Galactosemia

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Q

Galactosemia treatment

exclude

A

Galactose

Lactose

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Q

Fructosuria enzyme deficient

A

Fructokinase

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Q

Galactosemia enzyme deficient

A

Galactose-1-phosphate-uridyltransferase

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