An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.

Annotation

an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

DUI

D005633 MeSH Browser

CUI

M0008856

History note

1991(1975); use FRUCTOSE METABOLISM, INBORN ERRORS 1989-1990; use CARBOHYDRATE METABOLISM, INBORN ERRORS 1964-1988

Public note

1991; see FRUCTOSE METABOLISM, INBORN ERRORS 1989-1990; see CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-1988