Neonatal nephrocalcinosis in association with glucose-galactose malabsorption
β Scribed by Amitava Pahari; Peter J. Milla; William G. van't Hoff
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 137 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0931-041X
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π SIMILAR VOLUMES
A simple test is described for the diagnosis of monosaccharide malabsorption in infancy caused by a congenital defect of glucose and galactose transport. Increased hydrogen (H2) excretion in expired air after ingestion of sugar was used to diagnose this condition in an infant with severe diarrhoea a
Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder which presents with severe osmotic diarrhoea shortly after birth. Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na'-dependent glucose/galactose cotransporter (SGLTI) tha