Case Report and Follow up of a Neonate with Isovaleric Acidemia at a Tertiary Care Centre

1 Post Graduate, Department of Pediatrics, Chettinad Hospital & Research Institute, Chettinad Academy of Research & Education 2 Assistant Professor, Department of Neonatology, Chettinad Hospital & Research Institute, Chettinad Academy of Research & Education 3 Associate Professor, Department of Neonatology, Chettinad Hospital & Research Institute, Chettinad Academy of Research & Education 4 Professor, Department of Pediatrics, Chettinad Hospital & Research Institute, Chettinad Academy of Research & Education 5 Professor and Head of The Department, Department of Pediatrics, Chettinad Hospital & Research Institute, Chettinad Academy of Research & Education Abstract We report a case of neonate who was clinically normal at birth and was on direct breast feeds. Evaluation was done in view of abnormal odour of urine and previous 2 sibling deaths. Baby developed symptoms in the form of vomiting and lethargy on day 7 of life. Baby had associated late onset sepsis & was treated with antibiotics. Initial baseline workup for IEM showed hyperammonia & ketoacidosis. Tandem Mass Spectrometry was suggestive of Isovaleric academia & was started on specialized formula feeds (Leucine free diet). Baby was also continued on quantified amounts of breast feeds. Baby tolerated feeds well & was discharged with leucine free diet & carnitine supplementation which promotes normal development of infant. Baby was also continued with quantified amount of mother’s milk (30 ml/kg/day). Serial monitoring of growth parameters was done which was appropriate for age and serum aminoacid levels were monitored which was normal.