Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.

ABSTRACT: Mucopolysaccharidosis type III (MPS III, Sanfilippo disease) is a life-limiting recessive lysosomal storage disorder caused by a deficiency in the enzymes involved in degrading glycosaminoglycan heparan sulfate. MPS III is characterized by progressive deterioration of the central nervous system. Respiratory tract infections have been reported as frequent and as the most common cause of death, but gastrointestinal (GI) manifestations have not been acknowledged as a cause of concern. The aim of this study was to determine the incidence of GI problems as a primary cause of death and to review GI symptoms reported in published studies. Causes of death from 221 UK death certificates (1957-2020) were reviewed and the literature was searched to ascertain reported GI symptoms. GI manifestations we

SUBMITTER: Thomas S 

PROVIDER: S-EPMC8509825 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature