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-Reference-Cited by-同舟云学术

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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

Published:2022-06 Issue: Volume:31 Page:100859
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Tsai Anne Chun-Hui,Lin Hsin-Ti,Chou Maxwell,Bolen Jessica,Zimmerman Chelsea,DeMarzo Danielle,Enchautegui-Colon Yazmin

Funder

The University of Oklahoma Health Sciences Center

Children's Hospital Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference20 articles.

1. Isovaleric acidemia: a new genetic defect of leucine metabolism;Tanaka;Proc. Natl. Acad. Sci. U. S. A.,1966

2. US Food and Drug Administration Drug approval package: Carbaglu (Carglumic Acid) tablets, 2010.

3. Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase;Mohsen;Biochemistry,1995

4. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia;Grünert;Orphanet J. Rare Dis.,2012

5. Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study;Chinen;Mol. Genet. Metab. Rep.,2017

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