The 20 Best Pyruvate Carboxylase Deficiency Doctors in The United States

Allison Schulman, MD, MPH, FASGE, FACG is an Associate Professor and dually appointed in the Division of Gastroenterology and Hepatology and the Department of Surgery. She received her bachelor's degree from Cornell University in Ithaca, New York, and her medical degree from Weill Cornell Medical College in New York City, where she was inducted into the Alpha Omega Alpha (AOA) Medical Honor Society. She received a Master’s in Public Health (MPH) at Harvard University. She completed her residency in Internal Medicine at the Brigham and Women's Hospital in Boston, MA. Following residency training, Dr. Schulman completed fellowship in Gastroenterology, and went on to complete two additional fellowships in Bariatric Endoscopy followed by Advanced/Therapeutic Endoscopy. All of her training was at Harvard/Brigham and Women's Hospital. She joined faculty at Michigan in 2017 and was appointed Director of Bariatric Endoscopy and more recently selected as Chief of Endoscopy in 2023.Dr. Schulman's research has focused on endoscopic management of obesity and device development/innovation in therapeutic endoscopy. She is specifically interested in the management of complications following bariatric surgery, primary endoscopic therapy for obesity, and therapeutic endoscopic ultrasound (EUS). She also has interests in interventional hepatology and ERCP.She is a member of the Clinical Excellence Society and participates in committees through many gastroenterology and surgical societies, and is the current Chair of the Association of Bariatric Endoscopy (ABE/ASGE). Dr. Schulman is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Gastrointestinal Fistula, Choledocholithiasis, Hereditary Pancreatitis, Gastric Bypass, and Endoscopy. Dr. Schulman is board certified in Gastroenterology.

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

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. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome. Dr. Koeberl is board certified in American Board Of Medical Genetics, Clinical Biochemical Genetics , American Board Of Medical Genetics, Clinical Genetics And Genomics - General , and American Board Of Pediatrics, General Pediatrics.

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. 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. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

Laurie Seaver is a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. Dr. Seaver is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses 1p36 Deletion Syndrome, Hypotonia, 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 practicing medicine in Washington, Washington, D.c.. Dr. Shur is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), and Increased Head Circumference.

Ralph Deberardinis is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Deberardinis is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Pyruvate Carboxylase Deficiency, Cerebral Hypoxia, Gliomatosis Cerebri, and N-Acetylglutamate Synthase Deficiency.

Rebecca Ganetzky is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Kearns-Sayre Syndrome, Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Splenectomy.

Bryan Hainline is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Indianapolis, Indiana. Dr. Hainline is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 68 other conditions, according to our data. His clinical expertise encompasses 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 practicing medicine in Philadelphia, Pennsylvania. Dr. Sondheimer is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Homocystinuria, and Phenylketonuria (PKU).

Lamar Davis is a Neuromusculoskeletal Medicine provider practicing medicine in Jackson, Mississippi. Dr. Davis is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

Maija-riikka Steenari is a Neurologist and a Pediatric Neurologist practicing medicine in Orange, California. Dr. Steenari is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency. Dr. Steenari is currently accepting new patients.

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 Pyruvate Carboxylase Deficiency. 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.

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 Pyruvate Carboxylase Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 3, Malonyl-CoA Decarboxylase Deficiency, and Hyperlysinemia. Dr. Abdenur is currently accepting new patients.

Elizabeth Bowman is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Ms. Bowman is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and PEPCK 1 Deficiency.

Nicole Sue is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Ms. Sue is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, and PEPCK 1 Deficiency.

Deniz Altinok is a Neuroradiologist practicing medicine in Southfield, Michigan. Dr. Altinok is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Arachnoid Cysts, Choroid Plexus Cyst, Familial Porencephaly, Corpus Callosum Agenesis, and Gastrostomy.

Steven Zhao is an Internal Medicine provider practicing medicine in La Jolla, California. Dr. Zhao is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Acute Interstitial Pneumonia, Interstitial Lung Disease, Lung Metastases, and Long Haul COVID.

Vitaly Margulis is a Urologist practicing medicine in Dallas, Texas. Dr. Margulis is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Upper Tract Urothelial Carcinoma (UTUC), Urothelial Cancer, Renal Cell Carcinoma (RCC), Nephrectomy, and Orchiectomy.