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Last Updated: 01 June 2024
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5,10-methenyltetrahydrofolate synthetase deficiency
5,10-methenyltetrahydrofolate synthetase deficiency
MTHFS 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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