ArticleClinical case reports2019
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations.
Article in Clinical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case description.Quantitative imaging in medicine and surgery · 2026Article
- Lethal neonatal acidosis: Multiomic investigation of a novelMolecular genetics and metabolism reports · 2025Article
- "Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.Movement disorders clinical practice · 2024Article
- A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.Case reports in genetics · 2024Article
- 3-Hydroxyisobutyryl-CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis.Clinical case reports · 2021Article
- MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency.Radiology case reports · 2021Article
- Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients WithFrontiers in pharmacology · 2021Article
- 3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations.Clinical case reports · 2019Article
- 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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