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Valine metabolites analysis in ECHS1 deficiency
- Source :
- Molecular Genetics and Metabolism Reports, Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100809-(2021)
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- 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.
- Subjects :
- Medicine (General)
medicine.medical_specialty
QH301-705.5
Diet therapy
Urine
Tandem mass spectrometry
ECHS1, short-chain enoyl-CoA hydratase
chemistry.chemical_compound
R5-920
Endocrinology
Valine
Internal medicine
ECHS1
SCPCM, S-(2-carboxypropyl) cysteamine
Genetics
medicine
SCEC, S-(2-carboxyethyl)cysteine
Biology (General)
Short-chain enoyl-CoA hydratase deficiency
SCECM, S-(2-carboxyethyl)cysteamine
Molecular Biology
chemistry.chemical_classification
Leigh syndrome
Amino acid
chemistry
Cysteamine
LC-MS/MS, liquid chromatography with tandem mass spectrometry
SCPC, S-(2-carboxypropyl) cysteine
Research Paper
Cysteine
Subjects
Details
- ISSN :
- 22144269
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism Reports
- Accession number :
- edsair.doi.dedup.....675ecc5e25218922a70dea00dcd35285