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

 

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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

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