Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2022.100859
Abstract: With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia. This child… read more here.
Keywords: compound heterozygote; isovaleric acidemia; acid; hyperammonemia ... See more keywords
Neonatal isovaleric acidemia in China: A case report and review of literature
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DOI: 10.12998/wjcc.v9.i2.436
Abstract: BACKGROUND Isovaleric acidemia (IVA) is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). Its morbidity is low, but mortality is high. There is no effective cure for… read more here.
Keywords: isovaleric acidemia; acidemia china; case; report ... See more keywords
Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
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DOI: 10.3389/fgene.2022.898860
Abstract: Background: Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and different approaches have been applied to its prenatal diagnosis. However, systemic application of a biochemical strategy is rare. To evaluate its reliability and… read more here.
Keywords: diagnosis; amniotic fluid; isovaleric acidemia; genetic analysis ... See more keywords