Isovaleric Acidemia as a Rare Cause for Bad Obstetric History

Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels. Isovaleric acidemia is an unusual disorder with an inc...

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Autores principales:	Sailatha Ramanujam, Shery Angel, Anuradha Coimbatore Ramachandran, Anu Bhargavi Basker
Formato:	article
Lenguaje:	EN
Publicado:	JCDR Research and Publications Private Limited 2021
Materias:	inborn error of metabolism neonatal death pregnancy loss Medicine R
Acceso en línea:	https://doaj.org/article/cfbab62db94d41d78f76d11264ed1ff0
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spelling	oai:doaj.org-article:cfbab62db94d41d78f76d11264ed1ff02021-11-12T12:27:28ZIsovaleric Acidemia as a Rare Cause for Bad Obstetric History10.7860/JCDR/2021/49124.154342249-782X0973-709Xhttps://doaj.org/article/cfbab62db94d41d78f76d11264ed1ff02021-09-01T00:00:00Zhttps://www.jcdr.net/articles/PDF/15434/49124_CE[Ra1]_F[SH]_PF1(JY_SHU)_PFA(JY_AnK_KM)_PN(KM).pdfhttps://doaj.org/toc/2249-782Xhttps://doaj.org/toc/0973-709XIsovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels. Isovaleric acidemia is an unusual disorder with an incidence of 1:67,000 in India. Parents of the child are assumed to be carriers and the offsprings have a one in four (25%) chance of inheriting the disorder. The present article reports a 33-year-old, Gravida 3 Para 2 Live 0 (G3P2L0) at 38 week + 1 day, with previous two Lower Segment Caesarean Surgery (LSCS) and two neonatal deaths, who delivered a term boy baby with incidental finding of isovaleric acidemia at birth. Isovaleric acidemia could sometimes be a rare case for bad obstetric history and should be considered while evaluating a patient. Also, it is now possible to diagnose the condition by early prenatal tests and even before pregnancy by Preimplantation Genetic Diagnosis (PIGD) and by taking necessary steps.Sailatha RamanujamShery Angel Anuradha Coimbatore RamachandranAnu Bhargavi BaskerJCDR Research and Publications Private Limitedarticleinborn error of metabolismneonatal deathpregnancy lossMedicineRENJournal of Clinical and Diagnostic Research, Vol 15, Iss 9, Pp QD01-QD03 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	inborn error of metabolism neonatal death pregnancy loss Medicine R
spellingShingle	inborn error of metabolism neonatal death pregnancy loss Medicine R Sailatha Ramanujam Shery Angel Anuradha Coimbatore Ramachandran Anu Bhargavi Basker Isovaleric Acidemia as a Rare Cause for Bad Obstetric History
description	Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels. Isovaleric acidemia is an unusual disorder with an incidence of 1:67,000 in India. Parents of the child are assumed to be carriers and the offsprings have a one in four (25%) chance of inheriting the disorder. The present article reports a 33-year-old, Gravida 3 Para 2 Live 0 (G3P2L0) at 38 week + 1 day, with previous two Lower Segment Caesarean Surgery (LSCS) and two neonatal deaths, who delivered a term boy baby with incidental finding of isovaleric acidemia at birth. Isovaleric acidemia could sometimes be a rare case for bad obstetric history and should be considered while evaluating a patient. Also, it is now possible to diagnose the condition by early prenatal tests and even before pregnancy by Preimplantation Genetic Diagnosis (PIGD) and by taking necessary steps.
format	article
author	Sailatha Ramanujam Shery Angel Anuradha Coimbatore Ramachandran Anu Bhargavi Basker
author_facet	Sailatha Ramanujam Shery Angel Anuradha Coimbatore Ramachandran Anu Bhargavi Basker
author_sort	Sailatha Ramanujam
title	Isovaleric Acidemia as a Rare Cause for Bad Obstetric History
title_short	Isovaleric Acidemia as a Rare Cause for Bad Obstetric History
title_full	Isovaleric Acidemia as a Rare Cause for Bad Obstetric History
title_fullStr	Isovaleric Acidemia as a Rare Cause for Bad Obstetric History
title_full_unstemmed	Isovaleric Acidemia as a Rare Cause for Bad Obstetric History
title_sort	isovaleric acidemia as a rare cause for bad obstetric history
publisher	JCDR Research and Publications Private Limited
publishDate	2021
url	https://doaj.org/article/cfbab62db94d41d78f76d11264ed1ff0
work_keys_str_mv	AT sailatharamanujam isovalericacidemiaasararecauseforbadobstetrichistory AT sheryangel isovalericacidemiaasararecauseforbadobstetrichistory AT anuradhacoimbatoreramachandran isovalericacidemiaasararecauseforbadobstetrichistory AT anubhargavibasker isovalericacidemiaasararecauseforbadobstetrichistory
_version_	1718430524276473856

Isovaleric Acidemia as a Rare Cause for Bad Obstetric History

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