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Intestinal Enterokinase Deficiency Differential Diagnoses

  • Author: Agostino Nocerino, MD, PhD; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: Nov 17, 2015
 
 
 
Contributor Information and Disclosures
Author

Agostino Nocerino, MD, PhD Chief of Pediatric Oncology, Department of Pediatrics, University of Udine, Italy

Agostino Nocerino, MD, PhD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, Italian Society of Pediatric Hematology and Oncology, Italian Society of Pediatric Emergency and Urgent Care Medicine, Italian Society of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Stefano Guandalini, MD Founder and Medical Director, Celiac Disease Center, Chief, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago Medical Center; Professor, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Stefano Guandalini, MD is a member of the following medical societies: American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, European Society for Paediatric Gastroenterology, Hepatology & Nutrition, North American Society for the Study of Celiac Disease

Disclosure: Received consulting fee from AbbVie for consulting.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Hisham Nazer, MB, BCh, FRCP, , DTM&H Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MB, BCh, FRCP, , DTM&H is a member of the following medical societies: American Association for Physician Leadership, Royal College of Paediatrics and Child Health, Royal College of Surgeons in Ireland, Royal Society of Tropical Medicine and Hygiene, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

References
  1. Hadorn B, Tarlow MJ, Lloyd JK, Wolff OH. Intestinal enterokinase deficiency. Lancet. 1969 Apr 19. 1(7599):812-3. [Medline].

  2. Moroz SP, Hadorn B, Rossi TM, Haworth JC. Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase. Am J Gastroenterol. 2001 Jul. 96(7):2251-4. [Medline].

  3. Lentze M. Congenital diseases of the gastrointestinal tract. Georgian Med News. 2014 May. 46-53. [Medline].

  4. Zheng XL, Kitamoto Y, Sadler JE. Enteropeptidase, a type II transmembrane serine protease. Front Biosci (Elite Ed). 2009 Jun 1. 1:242-9. [Medline].

  5. Hoffmeister A, Dietz G, Zeitschel U, Mössner J, Rossner S, Stahl T. BACE1 is a newly discovered protein secreted by the pancreas which cleaves enteropeptidase in vitro. JOP. 2009 Sep 4. 10(5):501-6. [Medline].

  6. Holzinger A, Maier EM, Buck C, et al. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002 Jan. 70(1):20-5. [Medline]. [Full Text].

  7. Ghishan FK, Lee PC, Lebenthal E, Johnson P, Bradley CA, Greene HL. Isolated congenital enterokinase deficiency. Recent findings and review of the literature. Gastroenterology. 1983 Sep. 85(3):727-31. [Medline].

  8. Kitamoto Y, Veile RA, Donis-Keller H, Sadler JE. cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen. Biochemistry. 1995 Apr 11. 34(14):4562-8. [Medline].

  9. Domínguez-Muñoz JE. Pancreatic enzyme replacement therapy for pancreatic exocrine insufficiency: when is it indicated, what is the goal and how to do it?. Adv Med Sci. 2011. 56(1):1-5. [Medline].

  10. Domínguez-Muñoz JE, Iglesias-García J, Iglesias-Rey M, Figueiras A, Vilariño-Insua M. Effect of the administration schedule on the therapeutic efficacy of oral pancreatic enzyme supplements in patients with exocrine pancreatic insufficiency: a randomized, three-way crossover study. Aliment Pharmacol Ther. 2005 Apr 15. 21(8):993-1000. [Medline].

  11. Green JR, Bender SW, Posselt HG, Lentze MJ. Primary intestinal enteropeptidase deficiency. J Pediatr Gastroenterol Nutr. 1984 Sep. 3(4):630-3. [Medline].

  12. Imamura T, Kitamoto Y. Expression of enteropeptidase in differentiated enterocytes, goblet cells, and the tumor cells in human duodenum. Am J Physiol Gastrointest Liver Physiol. 2003 Dec. 285(6):G1235-41. [Medline].

  13. Lentze MJ, Green JR, Sterchi EE, Nussle D, Hermier M. Intestinal enteropeptidase deficiency associated with exocrine pancreatic insufficiency. Lancet. 1982 Aug 28. 2(8296):504. [Medline].

  14. Zamolodchikova TS, Sokolova EA, Lu D, Sadler JE. Activation of recombinant proenteropeptidase by duodenase. FEBS Lett. 2000 Jan 28. 466(2-3):295-9. [Medline].

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Position of mutations (red arrows), in relation to proenteropeptidase exon organization, domains, and amino acid residues forming the active site of the serine protease domain (H825, D876, and S971 [blue arrows]). All 4 mutations identified are null mutations that predict the absence of a correctly formed active site. The previously described modular structure of proenteropeptidease domains, based on primary-structure comparison, correlates with exon boundaries. SA = signal/anchor sequence; LDLR = LDL receptorlike domain; Muc = Mucin-domain; Meprin = Meprinlike domain; C1r/s = Complement component C1rlike domain; MSCR = Macrophage scavenger receptorlike domain. Adapted from American Journal of Human Genetics.
 
 
 
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