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3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
Authors
P. Karimzadeh
M. Keramatipour
+3 more
M. Nourbakhsh
M. Saberi
K. Sheidaee
Publication date
1 January 2019
Publisher
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. © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd
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eprints Iran University of Medical Sciences
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oai:eprints.iums.ac.ir:15047
Last time updated on 01/12/2020