Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia [chapter]

Lina Elzaouk, Hatam Osmani, Walter Leimbacher, Anne Romstad, Jennifer Friedman, Mia Maccollin, Beat Thöny, Nenad Blau
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
more » ... e found with SR deficiency characterized by a severe monoamine neurotransmitters deficiency without hyperphenylalaninemia. § First two authors contributed equally *Correspondence (blau@access.unizh.ch)
doi:10.1007/978-1-4615-0945-5_46 fatcat:4fg5dtmlb5ehzhz6ytwwtolhue