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Start Over Author "Minns, Robert A." Journal developmental medicine & child neurology
13 results on '"Minns, Robert A."'

11. Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.

Author

Tallur, K Kamath, Johnson, David A, Kirk, Jean M, Sandercock, Peter A G, and Minns, Robert A

Abstract

Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency may present with variable neurological manifestations. Radiological features include white matter changes (leukoencephalopathy). Clinical, biochemical, and radiological response to treatment may again be variable. Here we present a 12-year follow-up of two siblings on the same treatment regimen, with contrasting long-term findings. The first patient, a female presenting at 15 years, showed a good clinical response, substantial intellectual gain, and complete reversal of leukoencephalopathy. Her brother presented at 13 years 9 months and showed limited clinical and cognitive improvement with persistence of the leukoencephalopathy. Both siblings showed a partial biochemical response to treatment. [ABSTRACT FROM AUTHOR]

Published
2005
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