3-Hydroxyisobutyryl-CoA Hydrolase Deficiency (HIBCHD)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1718-1
Reference7 articles.
1. Brown GK et al (1982) Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics 70:532–538
2. Çakar NE, Görükmez O (2021) 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation. Ann Indian Acad Neurol 24:372–378. https://doi.org/10.4103/aian.AIAN_192_20
3. Ferdinandusse S et al (2013) HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis 8:188. https://doi.org/10.1186/1750-1172-8-188
4. Kılıç M, Kurt-Çolak F (2020) 3-Hydroxyisobutyryl-CoA hydrolase deficiency in a Turkish child with a novel HIBCH gene mutation and literature review molecular. Syndromology 11:170–175. https://doi.org/10.1159/000508728
5. Saneifard H, Mosallanejad A, Fallahzadeh A, Sheikhy A (2021) 3-Hydroxyisobutyryl-CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis. Clin Case Reports 9:e04528. https://doi.org/10.1002/ccr3.4528
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