Carbohydrate Disorders

Question 1

Indications for initial consults

Answer 1

abnormal NBS with GALT deficiency

child w/ frequent low sugars

Adult underwent DTC and was abnormal for hereditary fructose intolerance

prenatal carrier screening was abnormal for PYGM

family history of sibling with sudden death

Question 2

Hereditary Fructose intolerance gene

Answer 2

ALDOB

Question 3

Complications from Hereditary Fructose intolerance

Answer 3

hepatomegaly
liver dysfunction/ failure
bleeding
seizures, coma, death
poor growth

Question 4

Things to avoid with hereditary fructose intolerance

Answer 4

fructose (including some formulas)
sucrose
Danger with IV infusions and some medications

Question 5

Fructose-1,6 biphosphatase deficiency gene

Answer 5

FBP2

Question 6

Acute presentation for Fructose-1,6 biphosphatase deficiency

Answer 6

hepatomegaly
hypoglycemia
lactic acidosis
ketosis

Question 7

management for fructose-1,6 biphosphatase deficiency

Answer 7

avoidance of fasting to prevent further episodes