Hereditary fructose intolerance (Q40038): Difference between revisions
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Intolerância hereditária à frutose é um transtorno autossômico recessivo devido à deficiência da atividade da frutose-1-fosfato aldolase, que resulta em acúmulo de frutose-1-fosfato no fígado, rim e intestino delgado. É caracterizada por dor abdominal intensa, vômitos e hipoglicemia subsequente a ingestão de frutose ou outros açúcares metabolizados por meio de frutose-1-fosfato. | |||
| description / en | description / en | ||
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. | |||
Revision as of 05:41, 13 August 2026
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 |
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| 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. |
