Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report

We report a case of a 7-month-old boy with Short-chain enoyl-CoA hydratase (ECHS1) deficiency concomitant with prominent ketoacidosis, and no elevation in plasma lactate levels. He suddenly became unconscious, after he had a lot of defecation. He was referred to our hospital by a local doctor becaus...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Metab Rep
Auteurs principaux: Uesugi, Madoka, Mori, Jun, Fukuhara, Shota, Fujii, Noriko, Omae, Tadaki, Sasai, Hideo, Ichimoto, Keiko, Murayama, Kei, Osamura, Toshio, Hosoi, Hajime
Format: Artigo
Langue:Inglês
Publié: Elsevier 2020
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7606867/
https://ncbi.nlm.nih.gov/pubmed/33163364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100672
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