Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase <i>(IVD)</i> gene causing severe Isovaleric acidemia with hyperammonemia.

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

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.

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

Affiliation

Tsai AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
Lin HT; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
Chou M; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
Bolen J; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
Zimmerman C; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
DeMarzo D; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
Enchautegui-Colon Y; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.

Mol Genet Metab Rep ; 31: 100859, 2022 Jun.

Article in En | MEDLINE | ID: mdl-35782626