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Segawa's syndrome


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A disorder (infantile Parkinsonism) in which there is severe motor retardation. The autosomal recessive form is caused by mutation in the tyrosine hydroxylase gene and an autosomal dominant form by mutation in the GCH1 gene that encodes GTP cyclohydrolase I (EC 3.5.4.16), responsible for the rate-limiting step in tetrahydrobiopterin synthesis. (Tetrahydrobiopterin is essential for catecholamine synthesis.)

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