Inborn Error of Carbohydrate Metabolism

InbornError of
CarbohydrateMetabolism
What is it?
*Defective gene- that prevents carbohydrate (CHO) metabolism
-happens in infancy, childhood with hypoglycemia, poor physical growth
Facts:
*Galactosemia- lack of galatose-1-phosphate uridyl transferase
-correct diet to prevent physical/mental retardation, cataracts, cirrhosis,
portal hypertension
*Fructosemia- no enzyme to convert fructose to glucose
-rare and can cause gastrointestinal discomfort, growth failure, nausea, malaise
-omit sugar, maple syrup, molasses, honey, fructose, sucrose, sorbitol
*Hepatic glycogen storage diseases (GSD)-
-can’t convert glycogen to glucose in the liver
-increase protein intake, small/frequent feedings, if steroids need 2 gram Sodium Diet
-Avoid lactose and sucrose, concentrated sweets may be avoided
-Type I (Von Gierke’s disease)- deficiency of glucose-6-phosphatase
(converts glycogen to glucose)
*Sucrose intolerance- occurs after irritable bowel or gastrointestinal flu, eliminate
carbohydrates to prevent diarrhea
What can I do?
*See your Physician about vitamins, supplements
*Work with a RD to eliminate the nutrient not digested
*See FFF RD on line for help with meal planning
*Read all labels