Publication: Methylmalonic Acidemia – Cause of Recurrent Neonatal Death and Its Social Implications
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Madhavi, Vasikarla | |
| dc.contributor.author | Sharma, Deepak Kumar | |
| dc.contributor.author | Murki, Srinivas | |
| dc.contributor.author | Pratap, Tejo | |
| dc.date.accessioned | 2026-03-26T08:01:13Z | |
| dc.date.available | 2026-03-26T08:01:13Z | |
| dc.date.issued | 2014 | |
| dc.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 | |
| dc.description.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. | |
| dc.identifier | https://doi.org/10.3126/jnps.v34i2.10577 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/5489 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Methylmalonic Acidemia | |
| dc.subject | recurrent neonatal death | |
| dc.subject | social implications | |
| dc.subject | SCAD deficiency | |
| dc.title | Methylmalonic Acidemia – Cause of Recurrent Neonatal Death and Its Social Implications | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 153 | |
| oaire.citation.startPage | 150 | |
| relation.isJournalIssueOfPublication | cf0a3072-d750-4ea9-8054-17ef2d4e5efc | |
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