Preferred Label : fructose metabolism, inborn errors;
MeSH definition : Inherited abnormalities of fructose metabolism, which include three known autosomal
recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary
fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential
fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase,
leading to decreased conversion of fructose to fructose-1-phosphate and alimentary
hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes
test.;
MeSH annotation : an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT,
NEWBORN, DISEASES; DF: FRUCTOSE METAB INBORN ERR;
Origin ID : D015318;
UMLS CUI : C0016752;
Allowable qualifiers
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- See also (suggested by CISMeF)
- Semantic type(s)
Inherited abnormalities of fructose metabolism, which include three known autosomal
recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary
fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential
fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase,
leading to decreased conversion of fructose to fructose-1-phosphate and alimentary
hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes
test.
