title: Etiology and outcome of inborn errors of metabolism.
abstract: OBJECTIVE
  To study the clinical presentation, diagnostic workup and outcome of children presenting with suspected inborn errors of metabolism.
  
  
  METHODS
  The cross-sectional study was conducted at the Shifa International Hospital, Islamabad, and included all patients diagnosed with the condition between January 2006 and June 2011. Medical records of the patients were reviewed to collect the relevant data.
  
  
  RESULTS
  A total of 10 patients underwent diagnostic work-up. Majority 7 (70%) were males and 6 (60%) presented in the neonatal age group. Seizures and coma were the commonest presentations (n = 5; 50% each) followed by breathing difficulty (n = 4; 40%) and vomiting (n = 2; 20%). The commonest diagnoses were methyl malonic acidaemia (n=2; 20%), non-ketotic hyperglycinaemia (n=7; 10%), fructose 1,6 diphosphatase deficiency (n = 1; 10%), and biotinidase deficiency (n = 1; 10%). Mortality was high (n = 5; 50%) and half of the survivors had severe neurological impairment.
  
  
  CONCLUSIONS
  The diagnosis of inborn errors of metabolism requires a high index of suspicion. These disorders have a high mortality and risk of long-term neurological disability.
authors.affiliation: Department of Paediatrics, Shifa International Hospital, Islamabad, Pakistan. shehla126@yahoo.com
authors.forename: Shehla
authors.initials: S
authors.lastname: Choudhry
authors.affiliation: Department of Paediatrics, Shifa International Hospital, Islamabad, Pakistan.
authors.forename: Masood
authors.initials: M
authors.lastname: Khan
authors.affiliation: MEDICS Islamabad Hospital, Islamabad, Pakistan.
authors.forename: Hani Akbar
authors.initials: HA
authors.lastname: Rao
authors.affiliation: NIRMAN, Mumbai, India.
authors.forename: Anil
authors.initials: A
authors.lastname: Jalan
authors.affiliation: Department of Paediatrics, Shifa International Hospital, Islamabad, Pakistan.
authors.forename: Ejaz Ahmed
authors.initials: EA
authors.lastname: Khan
mesh_terms: D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy*; D010154:Pakistan / Q000453:epidemiology