Speaker 1: Mark Waltergfang MD – Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne Neuropsychiatry Centre, University of Melbourne, Florey Institue of Neuroscience and Mental Health, Melbourne, Australia
Speaker 2: Cary Harding MD -Professor of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA
1. How PKU and high levels of phenylalanine impact patients’ lives (by Barbara Burton MD)
2. The relationship of phenylalanine with brain changes and cognitive performance (by Shawn Chris PhD)
Speaker 1: Barbara Burton MD – Professor of Pediatrics, Ann & Robert H. Lurie Children’s Hospital, Northwestern University)
Speaker 2: Shawn Chris PhD, Associate Professor of Clinical Neuropsychology, University of Missouri)
Adult PKU patients present many challenges due to difficulties with compliance with the PHE restricted diet and neurocognitive issues related to poor blood PHE control; Sapropterin (KUVAN®) is a valuable tool in the treatment of Adults with PKU, resulting in improved PHE control and improvement in neurocognitive and psychiatric symptoms and improved outcome in BH4-responsive patients
Please contact us for more information.
BRINEURA® is indicated for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, also known as tripeptidyl peptidase 1 (TPP1) deficiency.
KUVAN® is indicated for the treatment of hyperphenylalaninemia (HPA) by reducing blood phenylalanine levels in patients with phenylketonuria (PKU) or tetrahydrobiopterin (BH4) deficiency.
NAGLAZYME® is indicated as long term enzyme replacement therapy in patients with Mucopolysaccharidosis VI (MPS VI, Nacetylgalactosamine 4- sulfatase deficiency, Maroteaux-Lamy syndrome).
VIMIZIM® is indicated for the treatment of MPS IVA (Mucopolysaccharidosis type IVA, morquio A syndrome).
VOXZOGO® is indicated for the treatment of achondroplasia in patients 2 years of age and older whose epiphyses are not closed. The diagnosis of achondroplasia should be confirmed by appropriate genetic testing.