Mol Genet Metab 2020 12 18;131(4):380-389. Epub 2020 Nov 18.
Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.. Electronic address:
Background: Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition.
Methods: Retrospective data (growth and clinical parameters, biochemical and genetic testing results, treatment) were collected from 19 patients with PTPS deficiency in different centers, to evaluate biochemical and clinical outcomes. Read More