New Term Request: Hypervalinemia and hyperleucine-isoleucinemia

[vjenkinsFB]

I'd like to request a term for hypervalinemia and hyperleucine-isoleucinemia. This is the first of several terms I am requesting from the first paper cited below on amino acid metabolism disorders, so I’m including some reviews on the topic below that I won’t include in future tickets, because they will probably be relevant to many or all of them. Future tickets will just have links to papers about the specific disease requested and not general reviews on the topic of amino acid metabolic disorders.

OMIM: https://omim.org/entry/618850

Potential definition: Hypervalinemia and hyperleucine-isoleucinemia has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.

Potential parent term: amino acid metabolic disorder

Synonyms: branched-chain aminotransferase 2 deficiency; HVLI

ClinVar search term: bcat2[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5394277

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:977

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/31177572/ Knerr I, Colombo R, Urquhart J, et al. Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency. J Inherit Metab Dis. 2019;42(5):809-817. doi:10.1002/jimd.12135
• https://pubmed.ncbi.nlm.nih.gov/38028625/ Chen C, Naveed H, Chen K. Research progress on branched-chain amino acid aminotransferases. Front Genet. 2023;14:1233669. Published 2023 Nov 6. doi:10.3389/fgene.2023.1233669
• https://pubmed.ncbi.nlm.nih.gov/36119495/ Nong X, Zhang C, Wang J, Ding P, Ji G, Wu T. The mechanism of branched-chain amino acid transferases in different diseases: Research progress and future prospects. Front Oncol. 2022;12:988290. Published 2022 Sep 2. doi:10.3389/fonc.2022.988290

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 Hypervalinemia and hyperleucine-isoleucinemia.

Best, Claudia Marie Sánchez-Beato Johnson

[lschriml]

Thank you Victoria, agreed, this will be added as a child of 'amino acid metabolic disorder'.

Cheers, Lynn

[csbjohnson]

Hi @vjenkinsFB,

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

Have a great day!