Glucose-galactose malabsorption (Q40046): Difference between revisions
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A má absorção de glicose-galactose é caracterizada por diarreia e desidratação neonatal grave. Cerca de 300 casos foram descritos até o momento. Glicosúria moderada também foi relatada, porém a absorção de frutose é normal. A má absorção de glicose-galactose é causada por uma mutação no gene SLC5A1, que codifica o cotransportador glicose-sódio, SGTL1. O modo de transmissão é autossômico recessivo. As consequências fatais desta síndrome podem ser evitadas seguindo uma dieta restrita em glicose e galactose. | |||
| description / en | description / en | ||
Glucose-galactose malabsorption is characterised by diarrhoea and severe neonatal dehydration. Around 300 cases have been described to date. Moderate glucosuria has also been reported, but fructose absorption is normal. Glucose-galactose malabsorption is caused by a mutation in the SLC5A1 gene, encoding the glucose-sodium cotransporter, SGTL1. The mode of transmission is autosomal recessive. The fatal consequences of this syndrome can be avoided by following a glucose and galactose restricted diet. | |||
Revision as of 05:42, 13 August 2026
Glucose-galactose malabsorption is characterised by diarrhoea and severe neonatal dehydration. Around 300 cases have been described to date. Moderate glucosuria has also been reported, but fructose absorption is normal. Glucose-galactose malabsorption is caused by a mutation in the SLC5A1 gene, encoding the glucose-sodium cotransporter, SGTL1. The mode of transmission is autosomal recessive. The fatal consequences of this syndrome can be avoided by following a glucose and galactose restricted diet.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C61.0 |
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| English | Glucose-galactose malabsorption |
Glucose-galactose malabsorption is characterised by diarrhoea and severe neonatal dehydration. Around 300 cases have been described to date. Moderate glucosuria has also been reported, but fructose absorption is normal. Glucose-galactose malabsorption is caused by a mutation in the SLC5A1 gene, encoding the glucose-sodium cotransporter, SGTL1. The mode of transmission is autosomal recessive. The fatal consequences of this syndrome can be avoided by following a glucose and galactose restricted diet. |
