Article
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
Acta neurologica Scandinavica. Supplementum - 1 Jan 2014
Koht J, Rengmark A, Opladen T, Bjørnarå K A, Selberg T, Tallaksen C M E, Blau N, Toft M
Abstract excerpt
OBJECTIVES: Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and neurotransmitter metabolism. This disorder is most probably underdiagnosed. To date, only 44 cases have been described in the literature. We present the clinical and genetic investigations in a family with a complex movement disorder. MATERIALS AND METHODS: We examined two affected sisters and three...
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