Ontology highlight
ABSTRACT:
SUBMITTER: Karimzadeh P
PROVIDER: S-EPMC6389474 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Karimzadeh Parvaneh P Saberi Mohammad M Sheidaee Kobra K Nourbakhsh Mitra M Keramatipour Mohammad M
Clinical case reports 20190115 2
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. ...[more]