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Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study

Grzegorz Węgrzyn1*, Julianna Kurlenda2, Anna Liberek3, Anna Tylki-Szymańska4, Barbara Czartoryska5, Ewa Piotrowska1, Joanna Jakóbkiewicz-Banecka6 and Alicja Węgrzyn7

Author Affiliations

1 Department of Molecular Biology, University of Gdańsk, Kładki 24, 80-822 Gdańsk, Poland

2 Department of Bacteriology, Provincial Hospital, Nowe Ogrody 1-6, 80-803 Gdańsk, Poland

3 Department of Pediatrics, Children's Gastroenterology and Oncology, Medical University of Gdańsk, Nowe Ogrody 1-6, 80-803 Gdańsk, Poland

4 Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-736 Warsaw, Poland

5 Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 01-957 Warsaw, Poland

6 Department of Genetics and Marine Biotechnology, Institute of Oceanology, Polish Academy of Sciences, Św. Wojciecha 5, 81-378 Gdynia, Poland

7 Laboratory of Molecular Biology (affiliated with the University of Gdańsk), Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Kładki 24, 80-822 Gdańsk, Poland

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BMC Pediatrics 2005, 5:9  doi:10.1186/1471-2431-5-9

Published: 9 May 2005



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.

Case presentation

A girl, diagnosed enzymatically for mucopolysaccharidosis type I (deficiency of α-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).


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.