title: Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study.
abstract: BACKGROUND
  Mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans). Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of unknown etiology.
  
  
  METHODS
  A girl, diagnosed enzymatically for mucopolysaccharidosis type I (deficiency of alpha-L-iduronidase) at the age of 3 years and 9 months, was investigated until the age of 5 years and 4 months. Frequent loose stools and episodes of diarrhea, often accompanied by vomiting, were encountered. Detailed microbiological analyses were performed and atypical microbial infections (most often enetropathogenic Escherichia coli, but also other species, like Pseudomonas aeruginosa or Staphylococcus aureus, as well as adenoviruses) of the digestive tract were found in most severe diarrhea episodes. Often, isolations of pathogenic bacterial strains from stools of the investigated patient suffering from diarrhea were not obvious during the first screening, and only detailed microbiological studies, including re-isolation of colonies, gave the results of isolation of particular pathogenic strains (especially in the case of enetropathogenic E. coli).
  
  
  CONCLUSIONS
  We conclude that atypical microbial infections of digestive tract may contribute significantly to diarrhea in mucopolysaccaridosis patients. Since isolated strains were not typical and their isolation was often possible only after detailed investigation (not during a standard screening), such atypical microbial infections of digestive tract of mucopolysaccharidosis patients could be usually overlooked to date. Importantly, these atypical infections could be effectively treated with antimicrobial agents.
authors.affiliation: Department of Molecular Biology, University of Gdańsk, Kładki 24, 80-822 Gdańsk, Poland. wegrzyn@biotech.univ.gda.pl
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Wegrzyn
authors.forename: Julianna
authors.initials: J
authors.lastname: Kurlenda
authors.forename: Anna
authors.initials: A
authors.lastname: Liberek
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymanska
authors.forename: Barbara
authors.initials: B
authors.lastname: Czartoryska
authors.forename: Ewa
authors.initials: E
authors.lastname: Piotrowska
authors.forename: Joanna
authors.initials: J
authors.lastname: Jakóbkiewicz-Banecka
authors.forename: Alicja
authors.initials: A
authors.lastname: Wegrzyn
mesh_terms: D000257:Adenoviridae Infections / Q000150:complications*; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001424:Bacterial Infections / Q000150:complications* / Q000175:diagnosis; D002675:Child, Preschool; D003967:Diarrhea / Q000188:drug therapy / Q000382:microbiology*; D004926:Escherichia coli / Q000302:isolation & purification; D005260:Female; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000150:complications*; D011550:Pseudomonas aeruginosa / Q000302:isolation & purification
chemical_list: D000900:Anti-Bacterial Agents