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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.

SUBMITTER: Karimzadeh P 

PROVIDER: S-EPMC6389474 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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

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]

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