Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study
Background: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare inborn error of valine catabolism associated with progressive neurological impairment.This retrospective cohort study aimed to characterize the clinical, biochemical, genetic, and respiratory chain profiles of HIBCH deficiency patients in Bahrain.Methods: Eight HIBCH deficie