Abstract:
A large number of inborn errors of metabolism (IEM) in children remain undetected
in India due to lack of investigative facilities and economic restraints. We screened
50 children presenting with neurological and metabolic problems at a tertiary level
teaching hospital in Karnataka for inborn errors of metabolism using a standard
protocol. There was male preponderance of cases (75%). The commonest clinical
presentation was convulsions (30%) followed by metabolic acidosis (15%). 15% of
the cases showed history of sibling deaths. We have come across four interesting
cases in the course of our study – Phenylketonuria, Methyl malonic aciduria,
Mucopolysaccharidosis and Branched Chain aminoaciduria, which will be presented
in detail in our paper.
