The 20 Best Maple Syrup Urine Disease Doctors in The United States

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 Maple Syrup Urine Disease. She is also highly rated in 27 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.

Jessica Gold is a Medical Genetics provider practicing medicine in Great Neck, New York. Dr. Gold is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Urea Cycle Disorders (UCD), and Gaucher Disease Type 3.

William Wilcox is a Medical Genetics provider practicing medicine in Atlanta, Georgia. He has been practicing medicine for over 38 years. Dr. Wilcox is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Wilcox is board certified in American Board Of Medical Genetics And Genomics, 1996.

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

Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Orlando, Florida. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.

Kristina Cusmano-Ozog is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Stanford, California. Dr. Cusmano-Ozog is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Maple Syrup Urine Disease, Mucolipidosis Type 4, Grix Blankenship Peterson Syndrome, and Micrognathia.

Nicholas Ah Mew is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Washington, Washington, D.c.. Dr. Ah Mew is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Maple Syrup Urine Disease, Argininosuccinic Aciduria, and Propionic Acidemia.

Joel Charrow is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Charrow is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease, Achondroplasia, Isovaleric Acidemia, and Splenectomy.

Rebecca Ahrens is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ahrens is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and RASopathies.

Gregory Enns is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Palo Alto, California. Dr. Enns is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 52 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.

Carlos Prada is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Prada is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 171 other conditions, according to our data. His clinical expertise encompasses RASopathies, Smith-Kingsmore Syndrome, Neurofibromatosis Type 1 (NF1), and Achondroplasia.

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 Maple Syrup Urine Disease. He is also highly rated in 177 other conditions, according to our data. His clinical expertise encompasses Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Classic Galactosemia, Biotinidase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

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 Maple Syrup Urine Disease. He is also highly rated in 155 other conditions, according to our data. His clinical expertise encompasses Citrullinemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD). Dr. Chang is currently accepting new patients.

Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Smith-Lemli-Opitz Syndrome. Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.

Jose Abdenur is a Medical Genetics provider practicing medicine in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Glycogen Storage Disease Type 9, Von Gierke Disease, Glycogen Storage Disease Type 3, and Malonyl-CoA Decarboxylase Deficiency. Dr. Abdenur is currently accepting new patients.

Abdallah Elias is a Medical Genetics provider practicing medicine in Salt Lake City, Utah. Dr. Elias is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses 1p36 Deletion Syndrome, Incontinentia Pigmenti, Maple Syrup Urine Disease, and Myhre Syndrome. Dr. Elias is board certified in American Board Of Medical Genetics & Genomics. Dr. Elias is currently accepting new patients.

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 Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, and Argininosuccinic Aciduria. Dr. Gunay is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Melissa Wasserstein is a Pediatrics provider practicing medicine in Bronx, New York. Dr. Wasserstein is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Reticulohistiocytoma, and Splenomegaly.

I find joy and satisfaction in my dedication to the care of children with rare diseases specifically: genetic disorders and inherited disorders of metabolism. Due to many years of training and practice, I have experience involving care of patients with a variety of genetic and metabolic conditions, including but not limited to glycogen storage diseases, fatty acid oxidation defects, mitochondrial disorders, lysosomal storage diseases, urea cycle disorders, organic acidurias, aminoacidopathies, and infantile hepatopathy due to LARS mutations, etc. I enjoy working together with children and their parents, whom I consider an important part of the team. I pursued this field because it gives me great satisfaction and pleasure to see the children with these conditions grow, and the patients and families feel cared for, and not isolated. I love learning about the children's interests, and see that they grow happy and healthy. I think out of the box when there is a challenge that needs to be met for the patient's care and management. Dr. Hassan is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Mitochondrial Trifunctional Protein Deficiency, Protein Deficiency, Von Gierke Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Hassan is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics and American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics.

Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Ahmad is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 50 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is board certified in Clinical Biochemical Genetics and Clinical Genetics & Genomics.