Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT.
Veiga-da-Cunha M, et al.
J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29.
J Inherit Metab Dis. 2020.
PMID: 31691304
Free PMC article.
Review.
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutrope …
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2 …