title: Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types.
abstract: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis.
  
  
  
  Descriptive study.
  
  
  
  Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015.
  
  
  
  All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey. Urine samples for glycosaminoglycan (GAGs) levels and dried blood samples for enzyme analysis were sent. Patients who were confirmed to be suffering from mucopolysaccharidosis were included in the study. The data was analysed using SSPS version 20.
  
  
  
  A total of 90 confirmed MPS cases, 52 males and 38 females, median age 42 months, were included. Hurler/Hurler-Scheie syndrome was the most frequent (75, 83.33%) followed by Morquio (6, 6.67%), Sanfilippo (5, 5.56%), Maroteaux-Lamy (3, 3.33%) and Hunter (1, 1.11%) syndromes. Consanguinity was present in 79 (87.78%) cases. Common features were hepatomegaly (80, 88.89%), coarse facies (70, 77.78%), splenomegaly (67, 74.44%), and bone disease (48, 53.33%).
  
  
  
  Most common variety of mucopolysaccharidosis was Hurler/Hurler Scheie followed by Morquio syndrome. Most of the patients were born to consanguineous parents. Common clinical features were coarse facies, hepatosplenomegaly and dysostosis multiplex.
authors.affiliation: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Huma Arshad
authors.initials: HA
authors.lastname: Cheema
authors.affiliation: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Hassan Suleman
authors.initials: HS
authors.lastname: Malik
authors.affiliation: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Muhammad Almas
authors.initials: MA
authors.lastname: Hashmi
authors.affiliation: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Zafar
authors.initials: Z
authors.lastname: Fayyaz
authors.affiliation: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Iqra
authors.initials: I
authors.lastname: Mushtaq
authors.affiliation: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore.
authors.forename: Nagina
authors.initials: N
authors.lastname: Shahzadi
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D015994:Incidence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000453:epidemiology / Q000652:urine; D010154:Pakistan / Q000453:epidemiology; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D015415:Biomarkers; D006025:Glycosaminoglycans