Lecture 10 Carbohydrate Metabolism Genetic Defects

Which Carbohydrate disorder is caused by a deficiency of Galactose-1-phosphate uridyltransferase (GALT)?

Galactosemia

What does a deficiency in GALT cause?

GALT deficiency = Galactosemia, the inability to metabolize galactose properly

BABY STRUGGLES WITH MILK (lactose = glucose + galactose)

What will the clinitest and clinistix value for urine be in cases of Galactosemia?

Clinitest +

Clinistix -

GALACTOSE PRESENT NOT GLUCOSE

Which carbohydrate disorder is caused by an Aldolase B deficiency?

Hereditary Fructose Intolerance

Which deficiency leads to Hypoglycemia after fructose ingestion?

Aldolase B

Which Carbohydrate disorder is by a Lactase deficiency?

Lactose Intolerance

Which deficiency will lead to GI problems after Lactose ingestion?

Lactase

Which carb disorder is caused by a lysosomal enzyme deficiency?

Mucopolysaccharides Storage Disease

such as Hurler Syndrome

Which carbohydrate disorder is caused by a G6P deficiency?

Von Gierke

Which carbohydrate deficiency causes Von Gierke Disease?

G6P deficiency

What organ is associated with the Von Gierke Disease?

LIVER

Which disease is caused by a Muscle Glycogen Phosphorylase deficiency?

McArdle Disease

What deficiency causes McArdle Disease?

Muscle Glycogen Phosphorylase Deficiency

What symptoms are seen in McArdle Disease?

MUSCLE PAIN and inability to exercise