Document Detail

Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies.
MedLine Citation:
PMID:  12394387     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Journal of pediatric gastroenterology and nutrition     Volume:  35     ISSN:  0277-2116     ISO Abbreviation:  J. Pediatr. Gastroenterol. Nutr.     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-23     Completed Date:  2003-03-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8211545     Medline TA:  J Pediatr Gastroenterol Nutr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  573-9     Citation Subset:  IM    
USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.
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MeSH Terms
Breath Tests
Carbohydrate Metabolism, Inborn Errors / enzymology*,  genetics
DNA, Complementary / chemistry,  genetics
Intestinal Absorption
Intestinal Mucosa / enzymology*,  pathology
Microvilli / enzymology
Starch / metabolism
Sucrase / deficiency*,  genetics
alpha-Glucosidases / deficiency*,  genetics
beta-Galactosidase / deficiency*,  genetics
Reg. No./Substance:
0/DNA, Complementary; 9005-25-8/Starch; EC; EC; EC; EC

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