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

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.

• Authors: Parvaneh Karimzadeh, Mohammad Saberi, Kobra Sheidaee, Mitra Nourbakhsh, Mohammad Keramatipour
• Journal: Clinical case reports (Clin Case Rep) Vol. 7 Issue 2 Pg. 375-380 (Feb 2019) ISSN: 2050-0904 [Print] England
• PMID: 30847210 (Publication Type: Case Reports)