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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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2021-09-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://www.jcdr.net/articles/PDF/15434/49124_CE[Ra1]_F[SH]_PF1(JY_SHU)_PFA(JY_AnK_KM)_PN(KM).pdf |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-19T03:25:37Z |
| format | Article |
| id | doaj.art-cfbab62db94d41d78f76d11264ed1ff0 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-19T03:25:37Z |
| publishDate | 2021-09-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-cfbab62db94d41d78f76d11264ed1ff02022-12-21T20:37:38ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2021-09-01159QD01QD0310.7860/JCDR/2021/49124.15434Isovaleric Acidemia as a Rare Cause for Bad Obstetric HistorySailatha RamanujamShery Angel Anuradha Coimbatore RamachandranAnu Bhargavi BaskerIsovaleric 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.https://www.jcdr.net/articles/PDF/15434/49124_CE[Ra1]_F[SH]_PF1(JY_SHU)_PFA(JY_AnK_KM)_PN(KM).pdfinborn error of metabolismneonatal deathpregnancy loss |
| spellingShingle | Sailatha Ramanujam Shery Angel Anuradha Coimbatore Ramachandran Anu Bhargavi Basker Isovaleric Acidemia as a Rare Cause for Bad Obstetric History Journal of Clinical and Diagnostic Research inborn error of metabolism neonatal death pregnancy loss |
| title | 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_short | Isovaleric Acidemia as a Rare Cause for Bad Obstetric History |
| title_sort | isovaleric acidemia as a rare cause for bad obstetric history |
| topic | inborn error of metabolism neonatal death pregnancy loss |
| url | https://www.jcdr.net/articles/PDF/15434/49124_CE[Ra1]_F[SH]_PF1(JY_SHU)_PFA(JY_AnK_KM)_PN(KM).pdf |
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