The 20 Best Pyruvate Carboxylase Deficiency Doctors Near Me

Andrew Sauer is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in Overland Park, Kansas. Dr. Sauer is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Heart Failure, Heart Failure with Preserved Ejection Fraction (HFpEF), Pulmonary Edema, Heart Transplant, and Colonoscopy. Dr. Sauer is currently accepting new patients.

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, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. 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 Kearns-Sayre Syndrome.

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.

As a physician, Dr. Wu strives to provide her patients with not just medical advice, but also emotional, social and spiritual support that is individualized to their needs. She strives to gain her patients trust and provide the best care she can, as she helps them fight illness and preserve dignity. Dr. Wu is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Small Cell Lung Cancer (SCLC), Lung Adenocarcinoma, Lynch Syndrome, Colorectal Cancer, and Bone Marrow Aspiration.

. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

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 Hypotonia, 1p36 Deletion Syndrome, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome. Dr. Seaver is currently accepting new patients.

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.

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.

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.

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.

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, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, and Pyruvate Carboxylase Deficiency.

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.

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).

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, L-2-Hydroxyglutaric Aciduria, and Rhabdomyolysis.

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.

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.

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.

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), Argininosuccinic Aciduria, Propionic Acidemia, Pyruvate Carboxylase Deficiency, and Liver Transplant.

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.