Published online Jan 16, 2021. doi: 10.12998/wjcc.v9.i2.436
Peer-review started: August 25, 2020
First decision: October 27, 2020
Revised: November 7, 2020
Accepted: November 21, 2020
Article in press: November 21, 2020
Published online: January 16, 2021
Core Tip: Isovaleric acidemia is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD), with a high mortality. We describe a 12-day-old male neonate diagnosed with IVD after tandem mass spectrometry and gas chromatography mass spectrometry analysis. Organic acid analysis of blood and urine showed extremely high concentrations of isovaleryl glycine. DNA sequencing of the IVD gene in the family revealed c.1193G>A mutation inherited from his mother and c.1208A>G mutation inherited from his father. Furthermore, the clinical characteristics and prognosis were discussed in combination with reported cases over the past 14 years.