MPS I – Gastrointestinal System

A distended abdomen is commonly observed in patients with severe MPS I and is typically caused by the progressive enlargement of the liver and/or spleen.^[1] Storage of glycosaminoglycans in the liver and spleen does not generally lead to organ dysfunction; however, organ size may be enlarged. Some children with MPS I suffer periodically from loose stools and diarrhea, sometimes alternating with periods of severe constipation due to storage within ganglion cells of the enteric nervous system. Hernias, both inguinal and umbilical, are common in patients with MPS I.^[2]

Gibbus deformity in an 18-month infant.
(Photo courtesy of Dr. Emil Kakkis)

References

1. Clarke, L.A. (1997) Clinical diagnosis of lysosomal storage diseases. In: Organelle Diseases. Clinical Features, Diagnosis, Pathogenesis and Management. Applegarth, D.A., Dimmick, J.E., and Hall, J.G. (eds.). Chapman and Hall Medical, London, pp. 37.

2. Clarke, L.A. and MacFarland, J. (2001) Mucopolysaccharidosis-I (MPS-I). The Canadian Society for Mucopolysaccharide and Related Diseases, Inc., Clarke, L.A., Kaweski, C., Di Ilio, L., and Hahn, S. (eds.). Ticky Graphics & Printing, Vancouver