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Last updated: 01 June 2024 Print

5,10-methenyltetrahydrofolate synthetase deficiency

Information
5,10-methenyltetrahydrofolate synthetase deficiencyMTHFS deficiency

Signs & Symptoms

  • Early Signs:
    • Developmental delay
    • Global failure to thrive
    • Microcephaly

    Causes

    • Rigidity and spasticity
    • Seizures and epilepsy (various types)
    • Cerebral hypomyelination (visible on MRI)

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