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Nephrolithiasis in a child with glucose-galactose malabsorption

✍ Scribed by Velibor Tasic; Nevenka Slaveska; Nenad Blau; René Santer


Publisher
Springer
Year
2004
Tongue
English
Weight
120 KB
Volume
19
Category
Article
ISSN
0931-041X

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✍ A. C. Douwes; M. Caillie; J. Fernandes; C. M. A. Bijleveld; J. F. Desjeux 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 342 KB

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

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✍ MARTÍN G. MARTÍN; ERIC TURK; CYNTHIA KERNER; BERNARD ZABEL; STEFAN WIRTH; ERNEST 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 399 KB

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