MediFind found 229 doctor with experience in Ornithine Transcarbamylase Deficiency near The United States. Of these, 153 are Experienced, 64 are Advanced, 11 are Distinguished and 1 are Elite.
Andrea Gropman is a Pediatric Neurologist and a Neurologist in Memphis, Tennessee. Dr. Gropman is rated as an Elite provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Klinefelter Syndrome, Urea Cycle Disorders (UCD), MELAS Syndrome, Ornithine Transcarbamylase Deficiency, and Hormone Replacement Therapy (HRT).
Rubenstein Child Health Building
Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.
Florida Hospital Medical Group Inc
Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Maitland, Florida. Dr. Mori is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Glycogen Storage Disease Type 7, FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Von Gierke Disease. Dr. Mori is currently accepting new patients.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Priestley has been practicing medicine for over 8 years and is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Fabry Disease, Ornithine Transcarbamylase Deficiency, Biotinidase Deficiency, and Multiple Sulfatase Deficiency.
Rubenstein Child Health Building
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 Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.
Johns Hopkins All Children's Outpatient Care, St. Petersburg
Meral Gunay-Aygun is a professor of pediatrics and genetic medicine at Johns Hopkins University School of Medicine. Dr. Gunay-Aygun specializes in the diagnosis and treatment of children and adults with inherited metabolic diseases including diagnostic evaluation and follow-up of newborns with abnormal newborn screens for inherited metabolic diseases. After serving 14 years as an attending physician at The Johns Hopkins Hospital in Baltimore, she joined the medical staff of Johns Hopkins All Children’s Hospital in St. Petersburg, Florida in 2022. Dr. Gunay-Aygun earned her medical degree from Hacettepe University School of Medicine, Ankara, Turkey. She completed pediatrics and medical genetics residencies at Case Western Reserve University, Cleveland, Ohio, and a biochemical genetics fellowship at the National Institutes of Health’s National Human Genome Research Institute, Bethesda, Maryland. She has made numerous research contributions, especially in the study of inherited ciliopathies, for which she has earned international recognition. Dr. Gunay-Aygun received the Innovative Leadership Award from Genetic Alliance, as well as the NHGRI Merit Award for her research on Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis. She is a member of myriad professional organizations, including the American Society of Human Genetics, the American Academy of Pediatrics, the Society of Pediatric Research and the Society for Inherited Metabolic Disorders. Dr. Gunay is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and Argininosuccinic Aciduria.
Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.
The Johns Hopkins Hospital
Hind Alsharhan is a Medical Genetics provider in Baltimore, Maryland. Dr. Alsharhan is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are ALG3-CDG, Ornithine Transcarbamylase Deficiency, Coenzyme Q Cytochrome C Reductase Deficiency, and Phenylketonuria (PKU).
University Of Texas Southwestern Medical Center At Dallas
Markey Mcnutt is a Medical Genetics specialist and an Endocrinologist in Frisco, Texas. Dr. Mcnutt is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Multiple Sulfatase Deficiency.
Jessica Scott-Schwoerer is a Pediatrics specialist and an Endocrinologist in Milwaukee, Wisconsin. Dr. Scott-Schwoerer is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Ornithine Transcarbamylase Deficiency, Von Gierke Disease, Propionic Acidemia, and Phenylketonuria (PKU). Dr. Scott-Schwoerer is currently accepting new patients.
Icahn School Of Medicine At Mount Sinai
Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Breilyn is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency, and Tyrosinemia Type 3.
Lurie Children's Medical Group Inc.
Joshua Baker is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Baker is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Urea Cycle Disorders (UCD), Acid Sphingomyelinase Deficiency (ASMD), and Propionic Acidemia.
Lpch Medical Group Div Of Lucile
Gregory Enns is a Pediatrics specialist and a Medical Genetics provider in Palo Alto, California. Dr. Enns is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Arginase Deficiency, and Cholesteryl Ester Storage Disease. Dr. Enns is currently accepting new patients.
Darrel Waggoner is a Medical Genetics provider in Chicago, Illinois. Dr. Waggoner is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Kabuki Syndrome, Caudal Appendage Deafness, and Gastrostomy. Dr. Waggoner is currently accepting new patients.
Annette Feigenbaum is a Medical Genetics provider in San Diego, California. Dr. Feigenbaum is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Ornithine Transcarbamylase Deficiency, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Iu Health Medical Group LLC
Molly Mcpheron is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Mcpheron is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. Her top areas of expertise are Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), Pompe Disease, and Danon Disease. Dr. Mcpheron is currently accepting new patients.
Carlos Prada is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Prada is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are RASopathies, Smith-Kingsmore Syndrome, Neurofibromatosis, and Neurofibromatosis Type 1 (NF1).
George Diaz is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Diaz is rated as a Distinguished provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Urea Cycle Disorders (UCD), and Ornithine Transcarbamylase Deficiency.
Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Citrullinemia, Beta-Ketothiolase Deficiency, Urea Cycle Disorders (UCD), and Biotinidase Deficiency. Dr. Chang is currently accepting new patients.
Jose Abdenur is a Medical Genetics provider in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of Ornithine Transcarbamylase Deficiency. His top areas of expertise are Von Gierke Disease, Glycogen Storage Disease Type 3, Hyperlysinemia, and Glutaric Acidemia Type 1. Dr. Abdenur is currently accepting new patients.
Last Updated: 01/09/2026





