| Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies. | |
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MedLine Citation:
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PMID: 12394387 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Multiple enzyme deficiencies have been reported in some cases of congenital glucoamylase, sucrase, or lactase deficiency. Here we describe such a case and the investigations that we have made to determine the cause of this deficiency. METHODS AND RESULTS: A 2.5 month-old infant, admitted with congenital lactase deficiency, failed to gain weight on a glucose oligomer formula (Nutramigen). Jejunal mucosal biopsy at 4 and 12 months revealed normal histology with decreased maltase-glucoamylase, sucrase-isomaltase, and lactase-phlorizin hydrolase activities. Testing with a C-starch/breath CO loading test confirmed proximal starch malabsorption. Sequencing of maltase-glucoamylase cDNA revealed homozygosity for a nucleotide change (C1673T) in the infant, which causes an amino acid substitution (S542L) 12 amino acids after the N-terminal catalytic aspartic acid. The introduction of this mutation into "wildtype" N-terminus maltase-glucoamylase cDNA was not associated with obvious loss of maltase-glucoamylase enzyme activities when expressed in COS 1 cells and this amino-acid change was subsequently found in other people. Sequencing of the promoter region revealed no nucleotide changes. Maltase-glucoamylase, lactase, and sucrase-isomaltase were each normally synthesized and processed in organ culture. CONCLUSIONS: The lack of evidence for a causal nucleotide change in the maltase-glucoamylase gene in this patient, and the concomitant low levels of lactase and sucrase activity, suggest that the depletion of mucosal maltase-glucoamylase activity and starch digestion was caused by shared, pleiotropic regulatory factors. |
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Authors:
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Buford L Nichols; Stephen E Avery; Wikrom Karnsakul; Farook Jahoor; Partha Sen; Dallas M Swallow; Ursula Luginbuehl; Dagmar Hahn; Erwin E Sterchi |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: Journal of pediatric gastroenterology and nutrition Volume: 35 ISSN: 0277-2116 ISO Abbreviation: J. Pediatr. Gastroenterol. Nutr. Publication Date: 2002 Oct |
Date Detail:
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Created Date: 2002-10-23 Completed Date: 2003-03-04 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8211545 Medline TA: J Pediatr Gastroenterol Nutr Country: United States |
Other Details:
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Languages: eng Pagination: 573-9 Citation Subset: IM |
Affiliation:
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USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA. bnichols@bcm.tmc.edu |
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| MeSH Terms | |
Descriptor/Qualifier:
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Breath Tests Carbohydrate Metabolism, Inborn Errors / enzymology*, genetics DNA, Complementary / chemistry, genetics Humans Infant Intestinal Absorption Intestinal Mucosa / enzymology*, pathology Lactase Male Microvilli / enzymology Starch / metabolism Sucrase / deficiency*, genetics alpha-Glucosidases / deficiency*, genetics beta-Galactosidase / deficiency*, genetics |
| Chemical | |
Reg. No./Substance:
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0/DNA, Complementary; 9005-25-8/Starch; EC 3.2.1.108/Lactase; EC 3.2.1.20/alpha-Glucosidases; EC 3.2.1.23/beta-Galactosidase; EC 3.2.1.48/Sucrase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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