New Drug Relieves TCA Cycle Block In Patients With PA And MMA by: Jerry Vockley, M.D., PH.D. UNIVERSITY OF PITTSBURGHCLEVELAND FAMILY PROFESSOR OF PEDIATRIC RESEARCHPROFESSOR OF HUMAN GENETICS, CHILDREN’S HOSPITAL OF PITTSBURGHCHIEF OF MEDICAL GENETICS DIRECTOR OF THE CENTER FOR
Current Research Articles on Propionic Acidemia Major Breakthrough on Propionic Acidemia Research PaVe-GT: Paving the Way for Rare Disease Gene Therapies Adeno-associated virus serotype 8 (AAV8) Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia New Drug Relieves
PA Consensus Conference Articles Reprinted from MOLECULAR GENETICS AND METABOLISM, Vol 105, No 1, 2012 with permission from Elsevier Reprinted from MOLECULAR GENETICS AND METABOLISM, Vol 105, No 1, 2012, pp 3-4, Kimberly A. Chapman, Marshall L. Summar, “Propionic Acidemia Consensus
Effective Gene Therapy for Propionic Acidemia in Mice: One Organic Acidemia Helps Another Randy J. Chandler, Nuria Carrillo-Carrasco, and Charles P. Venditti Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD Email:venditti@mail.nih.gov For many
Propionic Acidemia Research Update Adam Guenzel, Predoctoral Fellow, Virology and Gene Therapy ProgramMichael A. Barry, Ph.D., ProfessorMayo Clinic College of Medicine Background Gene therapy research in the Barry Lab at Mayo Clinic has been supported with funding from the Organic
Propionic Acidemia Nutritional Guidelines Are we there yet?! The Journey of the development of Propionic Acidemia Nutrition Guidelines It seems appropriate that the Propionic Acidemia (PROP) Nutrition Guidelines Nominal Group meeting in Atlanta, GA was held on a leap year,
Low Protein Food Product Companies USDA Nutrient Database Search the USDA Nutrient Database for Standard ReferenceEnter up to 5 keywords which best describe the food item. To view reports on foods by single nutrients, such as calcium or niacin, go
Carnitine Treatmentby: Deb Lee Gould, MEd, Director, FOD Family Support Group Information in this section is made available to help individuals make informed decisions in conjuction with their health care professionals. Please note: If your Physician needs more prescription information about
OAA Kids Receive Plushies At Conference At the recent OAA conference, the parents appreciated the plushies that brought their children joy and served the dual purpose of keeping their kids occupied so they could focus on the lectures. Two fellows
Red Blood Cell Metabolism in Patients withPropionic Acidemia Propionic acidemia (PA) is a rare, autosomal recessive disorder engendered by a dysfunctional propionyl-CoA carboxylase (PCC) enzyme [1]. PA has an estimated incidence of 1:100,000 live births in the general population, and
