title: Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
abstract: OBJECTIVE
  To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan.
  
  
  METHODS
  An observational study.
  
  
  METHODS
  Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014.
  
  
  METHODS
  All children aged < 14 years with high suspicion of a metabolic disorder were inducted. Routine and radiological investigation were carried out at the study place. Comprehensive diagnostic testing of particular metabolic disorder was sent abroad. Those with a specific metabolic disorder were included in the study while those with normal metabolic work-up were excluded. All data was collected on preformed proforma.
  
  
  RESULTS
  Atotal of 239 patients were enrolled. Nineteen different types of inherited metabolic disorders were diagnosed in 180 patients; age ranged from 8 days to 14 years. Consanguinity was positive in 175 (97%) among the parents of the affected children, with previously affected siblings in 64 (35.5%). The most frequent disorders were inherited disorders of carbohydrate metabolism (92, 51%), lipid storage disease (59, 32.7%), organic acidemia and energy defects (18, 10%), amino acid disorder (6, 3.3%), and miscellaneous (4, 2.2%). Fifty-eight (32.2%) presented with acute metabolic crisis, 28 (15.5%) patients presented with early onset liver failure, and 24 (13.3%) with mental retardation. Out of these, 16 (8.8%) expired.
  
  
  CONCLUSIONS
  Glycogen storage disorders being the commonest followed by Gaucher disease and Galactosemia. The associated complications resulted in high morbidity and mortality.
authors.affiliation: Department of Gastroenterology, Hepatology and Nutrition, The Children Hospital and Institute of Child Health, Lahore.
authors.forename: Huma Arshad
authors.initials: HA
authors.lastname: Cheema
authors.affiliation: Department of Gastroenterology, Hepatology and Nutrition, The Children Hospital and Institute of Child Health, Lahore.
authors.forename: Hassan Suleman
authors.initials: HS
authors.lastname: Malik
authors.affiliation: Department of Gastroenterology, Hepatology and Nutrition, The Children Hospital and Institute of Child Health, Lahore.
authors.forename: Arit
authors.initials: A
authors.lastname: Parkash
authors.affiliation: Department of Gastroenterology, Hepatology and Nutrition, The Children Hospital and Institute of Child Health, Lahore.
authors.forename: Zafar
authors.initials: Z
authors.lastname: Fayyaz
mesh_terms: D000293:Adolescent; D017677:Age Distribution; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005006:Ethnicity; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D010154:Pakistan / Q000453:epidemiology; D017678:Sex Distribution