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...
Guardado en:
| Autores principales: | , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
JCDR Research and Publications Private Limited
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/cfbab62db94d41d78f76d11264ed1ff0 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| Sumario: | 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. |
|---|