Academic Journal
Valine metabolites analysis in ECHS1 deficiency
| Title: | Valine metabolites analysis in ECHS1 deficiency |
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| Authors: | Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, Kei Murayama, Akira Ohtake, Masakazu Kohda, Yoshihito Kishita, Yukiko Yatsuka, Shumpei Uchino, Masakazu Mimaki, Noriko Miyake, Naomichi Matsumoto, Yasushi Okazaki, Tomomi Ogata, Takanori Yamagata, Kazuhiro Muramatsu |
| Source: | Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100809- (2021) |
| Publisher Information: | Elsevier, 2021. |
| Publication Year: | 2021 |
| Collection: | LCC:Medicine (General) LCC:Biology (General) |
| Subject Terms: | Short-chain enoyl-CoA hydratase deficiency, Leigh syndrome, Diet therapy, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| More Details: | Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this condition have been reported till date. The accumulation of intermediate metabolites of valine is assumed to be responsible for the cytotoxicity. Since protein restriction, including valine reportedly improves neurological symptoms, it is essential to consider the possible incidence of and diagnose ECHS1 syndrome in the earlier stages. This study reported the liquid chromatography with tandem mass spectrometry (LC-MS/MS) urine and plasma metabolite analysis in six cases, including four new cases with ECHS1 deficiency. The values of urine cysteine/cysteamine conjugates from valine metabolites, S-(2-carboxypropyl) cysteine/cysteamine from methacrylyl-CoA, and S-(2-carboxyethyl) cysteine/cysteamine from acryloyl-CoA were separated between six patients and six normal controls. The LC-MS/MS analysis revealed that these metabolites can be used for the early diagnosis and evaluation of diet therapy. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S221442692100104X; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2021.100809 |
| Access URL: | https://doaj.org/article/ade6758023d041699e4aaf4d74f60a8f |
| Accession Number: | edsdoj.6758023d041699e4aaf4d74f60a8f |
| Database: | Directory of Open Access Journals |
| ISSN: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2021.100809 |
| Published in: | Molecular Genetics and Metabolism Reports |
| Language: | English |