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 Pyruvate Carboxylase Deficiency. Her top areas of expertise are Fabry Disease, Ornithine Transcarbamylase Deficiency, Biotinidase Deficiency, and Multiple Sulfatase Deficiency.

Dwight Koeberl is a Medical Genetics specialist and a Pediatrics provider in Durham, North Carolina. Dr. Koeberl is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Propionic Acidemia. Dr. Koeberl 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 an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

Matthew Kacir is a Pediatrics provider in Avon, Ohio. Dr. Kacir is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Vitamin D Deficiency, Croup, Viral Gastroenteritis, and Pertussis. Dr. Kacir is currently accepting new patients.

Laurie Seaver is a Medical Genetics specialist and a Pediatrics provider in Grand Rapids, Michigan. Dr. Seaver is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are 1p36 Deletion Syndrome, Hypotonia, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome. Dr. Seaver is currently accepting new patients.

Alexandre Amaral practices in Porto Alegre, Brazil. Mr. Amaral is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Glutaric Acidemia Type 1, Pyruvate Carboxylase Deficiency, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, and Mitochondrial Trifunctional Protein Deficiency.

Rebecca Ganetzky is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Leigh Syndrome, Kearns-Sayre Syndrome, Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Splenectomy.

Cristiane Cecatto practices in Porto Alegre, Brazil. Cecatto is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Their top areas of expertise are Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, Mitochondrial Trifunctional Protein Deficiency, and Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency.

Moacir Wajner practices in Porto Alegre, Brazil. Wajner is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Their top areas of expertise are Medium-Chain Acyl-CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, and Sulfite Oxidase Deficiency.

Natasha Shur is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Shur is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Pyruvate Carboxylase Deficiency, Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), and Lowe Syndrome.

Roger Castilho practices in Campinas, Brazil. Mr. Castilho is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Propionic Acidemia, and L-2-Hydroxyglutaric Aciduria.

Ralph Deberardinis is a Pediatrics specialist and a Medical Genetics provider in Dallas, Texas. Dr. Deberardinis is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, Cerebral Hypoxia, Gliomatosis Cerebri, and N-Acetylglutamate Synthase Deficiency.

Bryan Hainline is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Hainline is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Pyruvate Carboxylase Deficiency, Urea Cycle Disorders (UCD), and Inborn Amino Acid Metabolism Disorder. Dr. Hainline is currently accepting new patients.

Neal Sondheimer is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Sondheimer is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Homocystinuria, and Phenylketonuria (PKU).

Audrey Boutron practices in Paris, France. Ms. Boutron is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Pyruvate Dehydrogenase Deficiency, Pyruvate Decarboxylase Deficiency, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

Sylvia Stockler-Ipsiroglu practices in Vancouver, Canada. Ms. Stockler-Ipsiroglu is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Guanidinoacetate Methyltransferase Deficiency, Pyruvate Carboxylase Deficiency, X-Linked Creatine Deficiency, and Lactic Acidosis.

Anupam Chakrapani practices in London, United Kingdom. Mr. Chakrapani is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Propionic Acidemia, Argininosuccinic Aciduria, Pyruvate Carboxylase Deficiency, and Liver Transplant.

Gabriella Horvath practices in Vancouver, Canada. Ms. Horvath is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Pyruvate Carboxylase Deficiency, Propionic Acidemia, Hypotonia, and Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency.

Graham Sinclair practices in Vancouver, Canada. Mr. Sinclair is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, Beriberi, Guanidinoacetate Methyltransferase Deficiency, and Vitamin B12 Deficiency Anemia.

Anthony Rodgers practices in Sydney, Australia. Mr. Rodgers is rated as a Distinguished expert by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Hypertension, Pyruvate Carboxylase Deficiency, HIV/AIDS, and Low Blood Pressure.