title: Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.
abstract: Lysosomal storage disorders (LSDs) are a group of >50 different types of inherited metabolic disorders that result from defects in the lysosome. The aim of this study was to investigate the distribution and demographic characteristics of the different subtypes of LSDs in Eastern China. From 2006 to 2012, 376 out of 1331 clinically suspected patients were diagnosed with 17 different subtypes of LSDs at our hospital. Mucopolysaccharidoses (MPS) were the most common group of LSDs (50.5%), followed by sphingolipidoses (25.4%) and Pompe disease (19.8%). Mucolipidosis type II/III accounted for the remaining 4% of diagnosed LSDs. MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%). Gaucher disease and Niemann-Pick disease type A/B were the two most common forms of sphingolipidoses. There was a large variation in the time between disease onset and eventual diagnosis, from 0.3 years in infantile-onset Pompe disease to 30 years in Fabry disease, highlighting timely and accurate diagnosis of LSDs as the main challenge in China.
authors.affiliation: Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Xueru
authors.initials: X
authors.lastname: Chen
authors.affiliation: Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Qiu
authors.affiliation: Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
authors.affiliation: Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Lianshu
authors.initials: L
authors.lastname: Han
authors.affiliation: Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Xuefan
authors.initials: X
authors.lastname: Gu
authors.affiliation: Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Huiwen
authors.initials: H
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002681:China; D000795:Fabry Disease / Q000235:genetics / Q000473:pathology; D005260:Female; D005776:Gaucher Disease / Q000235:genetics / Q000473:pathology; D006009:Glycogen Storage Disease Type II / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000145:classification / Q000235:genetics* / Q000473:pathology; D008247:Lysosomes / Q000235:genetics* / Q000473:pathology; D008297:Male; D009081:Mucolipidoses / Q000235:genetics / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000235:genetics / Q000473:pathology; D013106:Sphingolipidoses / Q000235:genetics / Q000473:pathology