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hereditary fructose intolerance
Pathology:
- inability to metabolize fructose & related sugars
Genetics:
- autosomal recessive
- associated with defects in ALDOB
Clinical manifestations:
1) symptoms follow ingestion of fructose, sucrose, or sorbitol
2) nausea
3) abdominal pain
Laboratory:
1) serum glucose: hypoglycemia
2) amino acids in urine: aminoaciduria
3) serum uric acid: hyperuricemia
4) urine uric acid: uricosuria
5) urine fructose: fructosuria
Complications:
- if not treated properly, episodes of hypoglycemia, general ill condition, & risk of death
Management:
- complete exclusion of fructose results in dramatic recovery
Related
fructose-1-phosphate aldolase
General
carbohydrate inborn error of metabolism
food intolerance
Database Correlations
OMIM 229600
References
- Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia,
PA. 1991, pg 183
- OMIM :accession 229600