Methylmalonic AcidemiaSymptoms, Doctors, Treatments, Advances & More
Learn About Methylmalonic Acidemia
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Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as an Elite provider by MediFind in the treatment of Methylmalonic Acidemia. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, and Progressive External Ophthalmoplegia. Dr. Vernon is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.
Charles Venditti is a Medical Genetics provider practicing medicine in Bethesda, Maryland. Dr. Venditti is rated as an Elite provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Homocystinuria, and Niemann-Pick Disease.
Oleg Shchelochkov is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Shchelochkov is rated as an Elite provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Propionic Acidemia, Argininosuccinic Aciduria, Methylmalonic Acidemia, and Urea Cycle Disorders (UCD).
Summary: Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis, a...
Summary: The primary objective of this study is to evaluate the long-term safety and clinical activity of mRNA-3705 administered to participants with isolated methylmalonic acidemia (MMA) due to methylmalonyl-coenzyme A mutase (MUT) deficiency who have previously participated in other clinical studies of mRNA-3705.