Publication: Methylmalonic Acidemia – Cause of Recurrent Neonatal Death and Its Social Implications
Date
2014
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Mr and Mrs R, non-consanguineous couple had history of all their children during neonatal period. First two neonates were normal at birth, then presented with lethargy, vomiting and decreased acceptance of feeds. Both the babies expired after birth without being investigated for cause of death. The third neonate was investigated for inborn error of metabolism and found to be affected with methylmalonic acidemia. The couple departed away inspite of extensive counselling. In the fourth pregnancy antenatally fetus was diagnosed as carrier case of methylmalonic acidemia and short chain fatty acid oxidase deficiency. The fourth baby was normal and was in follow up till one year age.
Description
Vasikarla Madhavi
MBBS, MD, Fellow in Genetics Department of Genetics, Fernandez Hospital, Hyderabad
Deepak Kumar Sharma
MD, DNB Neonatology (Student), Department of Neonatology, Fernandez Hospital, Hyderabad
Srinivas Murki
MD, DM Neonatology, Fernandez Hospital, Hyderabad
Tejo Pratap
MD, DM Neonatology, Fernandez Hospital, Hyderabad
Keywords
Methylmalonic Acidemia, recurrent neonatal death, social implications, SCAD deficiency