Methylmalonic Acidemia – Cause of Recurrent Neonatal Death and Its Social Implications

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v34i2.10577

Keywords:

Methylmalonic Acidemia, recurrent neonatal death, social implications, SCAD deficiency

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.

DOI: http://dx.doi.org/10.3126/jnps.v34i2.10577

J Nepal Paediatr Soc 2014;34(2):150-153

 

Downloads

Download data is not yet available.
Abstract
1041
PDF
651

Downloads

Published

2014-10-30

How to Cite

Madhavi, V., Sharma, D. K., Murki, S., & Pratap, T. (2014). Methylmalonic Acidemia – Cause of Recurrent Neonatal Death and Its Social Implications. Journal of Nepal Paediatric Society, 34(2), 150–153. https://doi.org/10.3126/jnps.v34i2.10577

Issue

Vol. 34 No. 2 (2014)

Section

Brief Reports/Case Reports/Case Series

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).