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Emma struggled from day one: Poor feeder, irritable, failed to gain weight At 4 months, switched to cow's milk formula (fortified with folic acid) By 6 months: severe developmental delays, abnormal muscle tone MRI showed white matter abnormalities Diagnosis: Cerebral Folate Deficiency (genetic testing was normal) Standard Treatment: Started on Leucovorin 5 mg daily

London: British Medical Association and Royal Pharmaceutical Society of Great Britain