Objectives: 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.
Conclusion: 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.