Disorders of Carbohydrate Metabolism Flashcards Preview

Inborn Errors Of Metabolism > Disorders of Carbohydrate Metabolism > Flashcards

Flashcards in Disorders of Carbohydrate Metabolism Deck (3)
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Sucrase-Isomaltase Deficiency

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

1

Galactosemia

- 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)

2

Hereditary Fructose Intolerance

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