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PMID: 3403721 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.

The Journal of clinical investigation ·Vol. 82 ·No. 2 ·1988-08-00 ·Pages 667-79

Naim HY, Roth J, Sterchi EE, Lentze M, Milla P, Schmitz J, Hauri HP

Abstract

Eight cases of congenital sucrase-isomaltase deficiency were studied at the subcellular and protein level with monoclonal antibodies against sucrase-isomaltase. At least three phenotypes were revealed: one in which sucrase-isomaltase protein accumulated intracellularly probably in the endoplasmic reticulum, as a membrane-associated high-mannose precursor, one in which the intracellular transport of the enzyme was apparently blocked in the Golgi apparatus, and one in which catalytically altered enzyme was transported to the cell surface. All patients expressed electrophoretically normal or near normal high-mannose sucrase-isomaltase. The results suggest that different, probably small, mutations in the sucrase-isomaltase gene lead to the synthesis of transport-incompetent or functionally altered enzyme which results in congenital sucrose intolerance.

MeSH Terms
Adolescent Adult Biological Transport Body Fluids/enzymology Child Female Humans Immunohistochemistry Infant Intestinal Mucosa/enzymology,metabolism,physiology Intracellular Fluid/enzymology,metabolism,physiology Male Microvilli/enzymology,metabolism,physiology Multienzyme Complexes/deficiency Mutation Phenotype RNA Processing, Post-Transcriptional Sucrase-Isomaltase Complex/deficiency,isolation & purification,physiology Sucrose/administration & dosage Syndrome Twins, Monozygotic
Chemicals
Multienzyme Complexes Sucrose Sucrase-Isomaltase Complex
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Naim H Y
Department of Gastroenterology, Children's Hospital, Bern, Switzerland.
Roth J
Sterchi E E
Lentze M
Milla P
Schmitz J
Hauri H P
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI113646
Published
1988-08-00
Pages
667-79
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC303562
Subset
IM
External Links
PubMed source DOI: 10.1172/JCI113646 PMC Full Text View journal details
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