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• W3203257544 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 were listed in 5.9% (n = 13) of death certificates. Median (IQR) age at death was 16.7 (5.3) years. Causes of death included GI failure, GI bleed, haemorrhagic pancreatitis, perforation due to gastrostomies, paralytic ileus and emaciation. Twenty-one GI conditions were reported in 30 studies, mostly related to functional GI disorders, including diarrhoea, dysphagia, constipation, faecal incontinence, abdominal pain/distension and cachexia.GI manifestations may be an under-recognized but important clinical feature of MPS III. Early recognition of GI symptoms and timely interventions is an important part of the management of MPS III patients." @default.
• W3203257544 created "2021-10-11" @default.
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• W3203257544 date "2021-09-27" @default.
• W3203257544 modified "2023-10-01" @default.
• W3203257544 title "Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature" @default.
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• W3203257544 doi "https://doi.org/10.3390/jcm10194445" @default.
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