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hereditary fructose intolerance
Used for:
fructose 1 phosphate aldolase deficiency
Broader Terms:
enzyme deficiency
Broader Terms:
inborn carbohydrate metabolism disorder
Related Terms:
autosomal recessive trait
Scope Note:
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; 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.
Term Number:
1849-3494
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