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Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia
[chapter]
2002
Chemistry and Biology of Pteridines and Folates
A 27 year-old woman presenting with the clinical picture characterized by hypersomnolence, mild psychomotor retardation, dystonia, oculomotor apraxia, weakness, and striking diurnal variations of symptoms was found to be sepiapterin reductase (SR)-deficient by investigations of pterins in cytokine stimulated fibroblasts. There was no detectable SR activity in the non-stimulated fibroblasts and mutation analysis revealed a homozygous Arg to Gly exchange at codon 150 (R150G). This is the third
doi:10.1007/978-1-4615-0945-5_46
fatcat:4fg5dtmlb5ehzhz6ytwwtolhue