The 20 Best Methylmalonic Acidemia Doctors in The United States

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).

Gregory Enns is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Palo Alto, California. Dr. Enns is rated as an Elite provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 53 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Arginase Deficiency, and Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency. Dr. Enns is currently accepting new patients.

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 Methylmalonic Acidemia. She is also highly rated in 28 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation. Dr. Hamosh is board certified in American Board Of Medical Genetics And Genomics.

. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

. Dr. Young is rated as an Experienced provider by MediFind in the treatment of Methylmalonic Acidemia. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Chorea, Movement Disorders, Parkinson's Disease, and Essential Tremor. Dr. Young is board certified in  .

Adeel Rahman is a Neurologist practicing medicine in Monroe, Georgia. He has been practicing medicine for over 34 years. Dr. Rahman is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Memory Loss, Dravet Syndrome, Seizures, and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). Dr. Rahman is board certified in American Board Of Psychiatry & Neurology, Neurology - 2005. Dr. Rahman is currently accepting new patients.

. Dr. Perszyk is rated as an Experienced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.

. Dr. Wess is rated as an Experienced provider by MediFind in the treatment of Methylmalonic Acidemia. His clinical expertise encompasses Type 2 Diabetes (T2D), Hypertension, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Wess is board certified in Am Os Bd Family Practice.

Peter Coelho is a primary care provider, practicing in Family Medicine in Gilroy, California. Dr. Coelho is rated as a Distinguished provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Methylmalonic Acidemia, Methylmalonyl Coenzyme A Mutase Deficiency, Enlarged Liver, and Visceromegaly.

Nirmala Aryal is a Neurologist practicing medicine in Phoenix, Arizona. Dr. Aryal is rated as a Distinguished provider by MediFind in the treatment of Methylmalonic Acidemia. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Transient Ischemic Attack (TIA), Migraine, Methylmalonic Acidemia, and Methylmalonic Acidemia with Homocystinuria.

Shoji Yano is a Medical Genetics provider practicing medicine in Los Angeles, California. Dr. Yano is rated as a Distinguished provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Infantile Refsum Disease, Methylmalonic Acidemia, and Maternal Hyperphenylalaninemia.

Tina Cowan is a Medical Genetics provider practicing medicine in Palo Alto, California. Dr. Cowan is rated as a Distinguished provider by MediFind in the treatment of Methylmalonic Acidemia. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Biotinidase Deficiency, Homocystinuria, and Urea Cycle Disorders (UCD).

Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 177 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

Vallur Thirumavalavan is a primary care provider, practicing in Internal Medicine in Somerset, New Jersey. Dr. Thirumavalavan is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Methylmalonic Acidemia, Methylmalonyl Coenzyme A Mutase Deficiency, Cirrhosis, Gastrostomy, and Endoscopy. Dr. Thirumavalavan is currently accepting new patients.

Garrett Gotway is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Gotway is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 132 other conditions, according to our data. His clinical expertise encompasses Caudal Duplication, 2q37 Deletion Syndrome, 47 XYY Syndrome, and Marshall Syndrome.

Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 156 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

Robert Rapp is a primary care provider, practicing in Internal Medicine in Aberdeen, Maryland. Dr. Rapp is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Lung Metastases, Type 2 Diabetes (T2D), Methylmalonyl Coenzyme A Mutase Deficiency, and Methylmalonic Acidemia. Dr. Rapp is currently accepting new patients.

Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia. She is also highly rated in 132 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).