Isovaleric Acidemia as a Rare Cause for Bad Obstetric History
Correspondence Address :
Dr. Anu Bhargavi Basker,
Plot No-294, First Main Road, M.K.B Nagar, Chennai, Tamil Nadu, India.
E-mail: anubasker94@gmail.com
Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovaleryl-Coenzyme 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.
Inborn error of metabolism, Neonatal death, Pregnancy loss
10.7860/JCDR/2021/49124.15434
Date of Submission: Feb 22, 2021
Date of Peer Review: Mar 26, 2021
Date of Acceptance: Jul 14, 2021
Date of Publishing: Sep 01, 2021
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Feb 24, 2021
• Manual Googling: Jul 13, 2021
• iThenticate Software: Aug 28, 2021 (5%)
ETYMOLOGY: Author Origin
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- Academic Search Complete Database
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- HINARI Access to Research in Health Programme
- Indian Science Abstracts (ISA)
- Journal seek Database
- Popline (reproductive health literature)
- www.omnimedicalsearch.com