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Milk-free diet for cerebral folate deficiency syndrome
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A clinical syndrome of psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and normal folate concentrations in plasma and red blood cells was described by Ramaekers and colleagues in 2002 and given the name cerebral folate deficiency syndrome (CFDS). The onset of symptoms and signs is usually 4–6 months after birth and seizures and autistic features may develop. Treatment is with pharmacological doses of reduced folates (5-formyltetrahydrofolate or 5-methyltetrahydrofolate). Children with CFDS have been found to have antibodies against the folate receptor (FR) and it is these that are thought to block folate transport into the CSF. Because the syndrome often appears after the introduction of cow’s milk into the diet, it has been suggested that the FR antibodies may be provoked by bovine FR in cows’ milk. Now researchers in Liège, New York and Zurich (Vincent T Ramaekers and colleagues.
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