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Abstract
Background: 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. Methods: Causes of death from 221 UK death certificates (1957–2020) were reviewed and the literature was searched to ascertain reported GI symptoms. Results: 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. Conclusions: 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.
Highlights
Mucopolysaccharidosis type III (MPS III, Sanfilippo disease) is a rare autosomal recessive lysosomal storage disorder (LSD) caused by the accumulation of glycosaminoglycan (GAG) heparan sulfate due to the deficiency of specific enzymes responsible for its degradation [1]
The aim of this study is to review death certificates of individuals with MPS III to determine the incidence of GI manifestations as a leading or contributing cause of death, and to review GI symptoms and signs reported in published studies of live or deceased individuals with MPS III
A total of 221 death certificates from deceased individuals were included in this study: 113 death certificates were available from Lavery et al [17], 24 from the MPS Society UK, and 84 new certificates with full records were obtained
Summary
Mucopolysaccharidosis type III (MPS III, Sanfilippo disease) is a rare autosomal recessive lysosomal storage disorder (LSD) caused by the accumulation of glycosaminoglycan (GAG) heparan sulfate due to the deficiency of specific enzymes responsible for its degradation [1]. Following an initial normal birth and development, the disease tends to progress through three main phases: the first phase usually begins at 1–3 years of age and is characterized by delayed cognitive development, specially speech delay; the second phase starts between 3–4 years of age and it is marked by the beginning of cognitive decline with challenging behaviour, including aggression, hyperactivity and sleep disturbance; the third stage, usually from 10 years of age onwards, is quieter as behavioural difficulties disappear but there is a rapid loss of cognitive processes and motor functions, including walking, swallowing and the development of seizures and pyramidal symptoms [1,2,6,7,8] Patients in this last phase tend to be immobile, fed by enteral tube and incontinent, becoming fully dependent on care. Recognition of GI symptoms and timely interventions is an important part of the management of MPS III patients
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