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Clinical, biochemical and molecular characterization of a new case with FDX2 -related mitochondrial disorder: Potential biomarkers and treatment options.

Parith WongkittichoteCassandra PantanoMiao HeXinying HongMatthew M Demczko
Published in: JIMD reports (2024)
2-Hydroxyadipic acid can serve as a potential adjunct biomarker for iron-sulfur assembly defects and lipoic acid biosynthesis disorders. Parenteral nutrition containing high lipid and protein content could be used to reverse acute rhabdomyolysis episodes in the patients with FDX2-related disorder.
Keyphrases
  • acute kidney injury
  • liver failure
  • drug induced
  • respiratory failure
  • fatty acid
  • cell wall