New Term Request: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

[vjenkinsFB]

I'd like to request a term for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

OMIM: https://www.omim.org/entry/246450

Potential definition: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.

Potential parent term: amino acid metabolic disorder

Synonyms: HMG-CoA lyase deficiency; HMGCL deficiency; HL deficiency; hydroxymethylglutaric aciduria; deficiency of hydroxymethylglutaryl-CoA lyase

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

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C0268601 Deficiency of hydroxymethylglutaryl-CoA lyase

MalaCards page: https://www.malacards.org/card/3_hydroxy_3_methylglutaryl_coa_lyase_deficiency

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5005

Citations other than those in the OMIM entry:

• 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/32059735/ Grünert SC, Sass JO. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces [published correction appears in Orphanet J Rare Dis. 2022 Jan 10;17(1):16]. Orphanet J Rare Dis. 2020;15(1):48. Published 2020 Feb 14. doi:10.1186/s13023-020-1319-7
• https://pubmed.ncbi.nlm.nih.gov/36771238/ Thompson S, Hertzog A, Selvanathan A, et al. Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases. Nutrients. 2023;15(3):531. Published 2023 Jan 19. doi:10.3390/nu15030531
• https://pubmed.ncbi.nlm.nih.gov/33996180/ Holdar S, Rahbeeni Z, Ramzan K, Imtiaz F. Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center. J Pediatr Genet. 2021;10(2):105-110. doi:10.1055/s-0040-1714698

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-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Best, Claudia Marie Sánchez-Beato Johnson

[allenbaron]

This disease will be in the next release as '3-hydroxy-3-methylglutaryl-CoA lyase deficiency' (DOID:0070541).