A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature
3-hydroxy isobutyl-CoA hydrolase (HIBCH) deficiency is a T-Shirt recently described, rare inborn error of valine metabolism associated with a Leigh syndrome-like phenotype, neurodegenerative symptoms, and caused by recessive mutations in the HIBCH gene.We report the most severe case to date of an intrauterine growth-restricted term male who present