Mosaic pattern of sucrase isomaltase deficiency in two brothers.

doi:10.1203/PDR.0b013e31815b4bac

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Article

Mosaic pattern of sucrase isomaltase deficiency in two brothers.

Pediatric research - 1 Jan 2008

Reinshagen Konrad, Keller Klaus M, Haase Bianca, Leeb Tosso, Naim Hassan Y, Zimmer Klaus P

Abstract excerpt

The pathophysiology of mucosal changes observed in infants with chronic protracted diarrhea is poorly understood. We report on two brothers suffering from a special form of sucrase isomaltase (SI) deficiency. The children presented with weight loss and dyspepsia after sucrose exposition. We performed an H respiration test, which showed a pathologic result in the younger brother. Analysis of the brush border...

Topics

CD13 Antigens
Carbohydrate Metabolism, Inborn Errors
Child
Duodenum
Enterocytes
Genotype
Humans
Lactase
Male
Microvilli
Mosaicism
Pedigree
Phenotype
Siblings
Sucrase-Isomaltase Complex

Source

Open in PubMed

Identifiers

PMID: 18043509
DOI: 10.1203/PDR.0b013e31815b4bac

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