Disorders of Carbohydrate Metabolism

Question 0

Galactosemia

Answer 0

• GALT deficiency
• Presents when 1-2wks old
• Hepatomegaly, JAUNDICE, emesis, hypoglycemia, hypotonia, cataracts
  may improve w/NPO/IVF and sx return when formula resumed
• E. COLI SEPSIS
• urine reducing substances (glucose/lactose) w/o glucosuria
• GALT, galactose-1-phosphate levels
• lactose free diet (soy formula ok)
• developmental delay, hypergonadotropic hypogonadism despite tx (endogenous galactose production)

Question 1

Sucrase-Isomaltase Deficiency

Answer 1

most common disaccharidase deficiency
diarrhea, poor weight gain
sx begin after introducing fruit/juice
can’t tolerate soy/hydrolysate formulas

Question 2

Hereditary Fructose Intolerance

Answer 2

Fructose 1,6 Bisphosphate Aldolase defect
Sx: N/V, szr, coma, liver failure, renal dz
chronic: FTT, CKD, liver dz
Tx: avoid fructose AND SUCROSE