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Valine metabolites analysis in ECHS1 deficiency.

Mari Kuwajima1, Karin Kojima1, Hitoshi Osaka1

  • 1Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

Molecular Genetics and Metabolism Reports
|October 20, 2021
PubMed
Summary

Diagnosing ECHS1 deficiency early is crucial for treating Leigh syndrome. Liquid chromatography-tandem mass spectrometry identified specific urine metabolites for early diagnosis and monitoring diet therapy effectiveness.

Keywords:
Diet therapyECHS1, short-chain enoyl-CoA hydrataseLC-MS/MS, liquid chromatography with tandem mass spectrometryLeigh syndromeSCEC, S-(2-carboxyethyl)cysteineSCECM, S-(2-carboxyethyl)cysteamineSCPC, S-(2-carboxypropyl) cysteineSCPCM, S-(2-carboxypropyl) cysteamineShort-chain enoyl-CoA hydratase deficiency

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Area of Science:

  • Biochemistry
  • Metabolomics
  • Clinical Genetics

Background:

  • Short-chain enoyl-CoA hydratase (ECHS1) deficiency impacts mitochondrial amino acid and fatty acid metabolism.
  • This deficiency is linked to severe neurological disorders like Leigh syndrome and exercise-induced dystonia.
  • Accumulation of valine metabolites is hypothesized to cause cytotoxicity.

Purpose of the Study:

  • To identify reliable biomarkers for early diagnosis of ECHS1 deficiency.
  • To evaluate the utility of specific urine metabolites in diagnosing ECHS1 deficiency.
  • To assess the potential of these metabolites for monitoring dietary interventions.

Main Methods:

  • Liquid chromatography with tandem mass spectrometry (LC-MS/MS) was employed for metabolite analysis.
  • Urine and plasma samples from six ECHS1 deficiency patients (four new cases) and six healthy controls were analyzed.
  • Quantification of specific cysteine/cysteamine conjugates derived from valine metabolites was performed.

Main Results:

  • Distinct patterns of urine cysteine/cysteamine conjugates were observed between patients and controls.
  • Elevated levels of S-(2-carboxypropyl) cysteine/cysteamine and S-(2-carboxyethyl) cysteine/cysteamine were detected in patients.
  • These specific metabolites showed potential for differentiating ECHS1 deficiency.

Conclusions:

  • LC-MS/MS analysis of specific urine metabolites offers a promising approach for early diagnosis of ECHS1 deficiency.
  • Identified metabolites can aid in evaluating the efficacy of protein-restricted diet therapy.
  • Early diagnosis and management are essential for improving neurological outcomes in ECHS1 deficiency.