New Term Request: 3-hydroxyisobutryl-CoA hydrolase deficiency

[vjenkinsFB]

I'd like to request a term for 3-hydroxyisobutryl-CoA hydrolase deficiency.

OMIM: https://omim.org/entry/246900

Potential definition: Dihydrolipoamide dehydrogenase deficiency has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.

Potential parent term: amino acid metabolic disorder

Synonyms: Beta-hydroxyisobutyryl coa deacylase deficiency, HIBCH deficiency, methacrylic aciduria; methacrylic acid toxicity; valine metabolic defect; HIBCHD

ClinVar search term: hibch AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C0342738 Beta-hydroxyisobutyryl-CoA deacylase deficiency

MalaCards page: https://www.malacards.org/card/3_hydroxyisobutyryl_coa_hydrolase_deficiency

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4908

Citations other than those in the OMIM entry (many more are available, this seems to be an active field):

• https://pubmed.ncbi.nlm.nih.gov/38416643/ Martelli F, Lin J, Mele S, et al. Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics. Cell Rep. 2024;43(3):113861. doi:10.1016/j.celrep.2024.113861
• https://pubmed.ncbi.nlm.nih.gov/33506479/ Spitz MA, Lenaers G, Charif M, et al. Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency. Neuropediatrics. 2021;52(5):410-414. doi:10.1055/s-0040-1722678
• https://pubmed.ncbi.nlm.nih.gov/29703962/ Tan H, Chen X, Lv W, Linpeng S, Liang D, Wu L. Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review. J Hum Genet. 2018;63(7):851-855. doi:10.1038/s10038-018-0461-8

FlyBase paper(s) to curate with this term: FBrf0259145

My contact info: [email protected] (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request . We'll review your new term request for 3-hydroxyisobutryl-CoA hydrolase deficiency.

Best, Claudia Marie Sánchez-Beato Johnson

[lschriml]

Agreed, this will be added as a child of : amino acid metabolic disorder

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370149/ 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism.

OMIM:250620 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY ORPHA:88639 https://www.orpha.net/en/disease/detail/88639

synonyms: HIBCH deficiency Methacrylic aciduria Valine metabolic defect

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request. I have implemented the additions discussed, and they will be reflected in the next Disease Ontology Release.

Have a great day!