3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

We report a patient presenting with developmental delay, Leigh‐like abnormalities on MRI and elevated 3‐hydroxyisovaleric acid levels. Upon whole‐exome sequencing, he was diagnosed with 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH deficiency should be considered in the differential diagnosis of Leigh‐like disease and/or organic aciduria.