Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate. (Orphanet Rare Disease Ontology, Orphanet_469)
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1 genes associated with the disease hereditary fructose intolerance. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.