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Abstract

Abstract


Objective: To study the prevalence of selected disorders of inborn errors of metabolism at a tertiary care hospital in Karachi by performing selective screening of high risk clinically suspected individuals.
Methods: Cross sectional comparative study, was done at the Paediatric Endocrine Unit 2 of National Institute of Child Health Karachi in collaboration with Sapporo City Institute of Public Health, Japan. Sixty-two children age < 1 month-10 years meeting the inclusion criteria (Undiagnosed family history of similar illness or deaths, history of recurrent episodes of severe or persistent vomiting for which no infection or surgical cause was found and history of undiagnosed neurological symptoms and developmental delay) were enrolled in the study. Routine workup of inborn errors of metabolism was done in each child and their dried blood samples (DBS) and dried urine samples (DUS) were send to IEM Selective Screening Unit Japan. SPSS version 10 was used to derive results and p-value of