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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pharmacology

Background:

  • Lipid storage myopathies (LSM) are rare muscle disorders causing weakness and elevated creatine kinase (CK).
  • Acquired LSM, like Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), can result from medications such as sertraline, which may inhibit the respiratory chain.
  • High-dose riboflavin is the primary treatment for MADD.

Purpose of the Study:

  • To present two cases of acquired, sertraline-associated MADD-like disorder.
  • To evaluate the efficacy of riboflavin treatment in these patients.

Main Methods:

  • Case report of two adult-onset patients with acquired MADD-like disorder.
  • Treatment with high-dose riboflavin supplementation.
  • Monitoring of clinical strength and serological markers (CK levels, acylcarnitine profiles).

Main Results:

  • Both patients experienced full clinical recovery (strength returned to baseline) within two months.
  • Significant reduction in CK levels (650-700 U/L decrease) within one month.
  • Marked improvement in acylcarnitine profiles, indicating reduced fatty acid accumulation, within six months.

Conclusions:

  • Riboflavin therapy is effective for sertraline-associated MADD, even in genetically negative individuals.
  • These findings support the use of riboflavin for medication-associated metabolic myopathies.
  • Early recognition and targeted riboflavin treatment are crucial for managing these conditions.