European Journal of Molecular & Clinical Medicine

Abstract

Inborn errors of metabolism (IEM) are a genetically inherited disorder that has led to
significant morbidity and mortality in the newborns and infant age group. The true
prevalence of IEM in India is not known. Havingnon-specific clinical presentation and
lack of a routine screening program for newborns in India, it mostly remain
undiagnosed and under-reported. With a wide spectrum of nonspecific
symptoms,misdiagnosis or delayed diagnosis is common, so our objective is toenhance
knowledge and create awareness regarding the red flags of IEM among clinicians so
that even slight suspicion of clinical symptoms should be followed by biochemical
evaluation.
Many IEM presents with clinical features resembling sepsis but detailed investigations
and through history can help us think beyond sepsis. Workup for IEM in our case was
suggestive of Propionic acidemia (PA) and Methyl malonicacidemia (MMA).We provide
a clinical approach for such critically ill newborns diagnosis. If these cases are detected
early and given timely treatment, clinical outcomes can be improved.