Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042963 (vomiting)
31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by mutation in the ALDOB gene, which leads to aldolase B deficiency. Fructose ingestion results in accumulation of substrates fructose 1-phosphate and fructose 1,6-biphosphate, leading to impairment of glycolytic and gluconeogenic pathways(1,2) . Patients with HFI typically present with vomiting, hypoglycemia, hepatomegaly, acute liver failure, renal tubular dysfunction and failure to thrive(1,2) .
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PMID:Sucrose Toxicity in Infants. 3327 39