Hereditary fructose intolerance (Q40038)
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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 characterised by severe abdominal pain, vomiting, and hypoglycaemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C51.50 |
||
| English | Hereditary fructose intolerance |
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 characterised by severe abdominal pain, vomiting, and hypoglycaemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate. |
Statements
CID11:5C51.50
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dki-india-5C51.50
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Concluído
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13 August 2026
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