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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.
Potential definition: Hypervalinemia and hyperleucine-isoleucinemia has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.
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
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:
FlyBase paper(s) to curate with this term: FBrf0259145
My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!
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