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

Parvaneh Karimzadeh; Mohammad Saberi; Kobra Sheidaee; Mitra Nourbakhsh; Mohammad Keramatipour

doi:10.1002/ccr3.1998

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

Clin Case Rep. 2019 Jan 15;7(2):375-380. doi: 10.1002/ccr3.1998. eCollection 2019 Feb.

Authors

Parvaneh Karimzadeh¹, Mohammad Saberi², Kobra Sheidaee¹, Mitra Nourbakhsh³, Mohammad Keramatipour²

Affiliations

¹ Department of Pediatric Neurology Mofid Children Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.
² Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran.
³ Department of Biochemistry Faculty of Medicine Iran University of Medical Sciences Tehran Iran.

Abstract

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.

Keywords: HIBCH deficiency; Leigh‐like disease; isovaleric acidemia; mitochondrial disorders; valine metabolism.

Publication types

Case Reports