The 20 Best Pyruvate Carboxylase Deficiency Doctors in New York, US

Sheemon Zackai is a Pediatrics provider in New York, New York. Dr. Zackai is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

Ronald Fagan is a Gastroenterologist in Farmingdale, New York. Dr. Fagan is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Gastric Dysmotility, Macroamylasemia, Colitis, and Viral Gastroenteritis.

Jaya Ganesh is a Pediatrics provider in New York, New York. Dr. Ganesh is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Pompe Disease, and Danon Disease.

Ibrahim Elsharkawi is a Pediatrics provider in New York, New York. Dr. Elsharkawi is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are MELAS Syndrome, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Tyrosinemia Type 3.

James Horohoe is a primary care provider, practicing in Internal Medicine in Henrietta, New York. Dr. Horohoe is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and PEPCK 1 Deficiency.

Xin He is a primary care provider, practicing in General Practice in New York, New York. Dr. He is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Fibrosarcoma, Acute Myeloid Leukemia (AML), Osteosarcoma, Vertebroplasty, and Tissue Biopsy.

Thomas Mcternan is a primary care provider, practicing in Internal Medicine in Irving, New York. Dr. Mcternan is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Carboxylase Deficiency, and Pyruvate Dehydrogenase Deficiency.

Dr. Eduardo C. Beauchamp is an Assistant Professor of Orthopedic Surgery with Columbia University’s Department of Orthopedic Surgery and is a board-certified Orthopedic Spine Surgeon. His practice focuses on operative treatment of both adult and pediatric spine conditions, including complex spinal deformity, scoliosis, spondylolisthesis, cervical, thoracic and lumbar degenerative conditions, spinal stenosis and disc herniations. He employs minimally invasive techniques, robotic and CT guided navigation for instrumentation as well as open spine surgical techniques to provide an individualized and comprehensive approach to surgical treatment of spinal pathology. Born and raised in San Juan, Puerto Rico, Dr. Beauchamp completed medical school and orthopedic surgery residency at the University of Puerto Rico. He then completed an initial fellowship in Orthopedic Spine Surgery at Twin Cities Spine Center in Minneapolis, MN, followed by a second fellowship in Advanced Pediatric Spine Deformity at Columbia University/New York-Presbyterian Hospital. Before joining the faculty at Columbia University, Dr. Beauchamp served as an adult and pediatric spine surgeon and head of clinical research at Twin Cities Spine Center and Gillette Children’s Hospital in Minneapolis, MN, where he practiced for seven years. He has received numerous awards, written multiple book chapters and peer reviewed research papers on adult and pediatric spine surgery and been selected as a Top Doctors’ Rising Stars. In addition to his clinical practice, he is also involved in the training of national and international spine surgeons, as well as medical students and Orthopedic Surgery residents. His research interests include adult and pediatric scoliosis, as well as cervical and lumbar degenerative conditions, work he has presented on the national and international level. Dr. Beauchamp is an active member of the American Academy of Orthopedic Surgeons (AAOS), North American Spine Society (NASS), Scoliosis Research Society (SRS), Pediatric Spine Study Group (PSSG), and Puerto Rico Orthopedic Society. In his free time, he enjoys golfing, deep sea fishing and spending time with his wife and family. Dr. Beauchamp is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Scoliosis, Kyphosis, Spinal Stenosis, Microdiscectomy, and Cervical Disc Surgery.

Jennifer Bain, MD, PhD, is an Associate Professor of Neurology and Pediatrics at the Columbia University Medical Center. Dr. Bain completed both an MD and PhD, as well as general pediatrics residency at Rutgers – New Jersey Medical School in New Jersey. She then trained in Child Neurology at NewYork-Presbyterian/Columbia University Irving Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology seeing both inpatient and outpatient pediatric neurology patients. Her clinic focuses on diagnosis and management of autism, cerebral palsy and neurodevelopmental disorders in addition to genetic disorders associated with such conditions.Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy. During her residency training, her clinical research focused on studying autonomic dysfunction in children with autism spectrum disorders and neurological complications during extracorporeal membrane oxygenation. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in development, behavioral neurology, autism and cerebral palsy. Her clinical research has focused on studying the genetics of neurodevelopmental disorders including autism and cerebral palsy. The genes she has worked closely on include HNRNPH2 and related disorders, GRIN disorders, KIF1A. She is interested in understanding clinically meaningful measures in families affected by neurodevelopmental disorders and measuring longitudinal trajectories in such disorders. She has been working closely with several patient advocacy groups, researchers, and Simons Searchlight to continuously move forward in the understanding of the developing and aging brain. Dr. Bain is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are HNRNPH2-Related Disorder, Autism Spectrum Disorder, Early Infantile Epileptic Encephalopathy, and Cerebral Palsy.

Alejandro Iglesias, MD is Assistant Professor of Pediatrics, Director of the Inherited Metabolic Program, Program Director of the Medical Genetics Residency program and Attending Physician in the Division of Medical Genetics, Department of Pediatrics at New York Presbyterian Hospital/Columbia University Medical Center. He is a clinical and biochemical geneticist primarily interested in inherited metabolic disorders and neurogenetics and dysmorphology. In his role as Director of the Inherited Metabolic Program he is deeply involved in all aspects related with the diagnosis, management and overall care of patients and families with these disorders. In addition, he is in charge of the education of young physicians and medical students in the field of IMD. As an educator, he is in charge of the medical biochemistry lecture series for the first year medical students at the Physicians & Surgeons Medical School at Columbia University paving the way for a new generations of brilliant medical students at Columbia University. Finally, his involvement with the diagnosis and care of patients with X-linked adrenoleukodystrophy has been one of his main accomplishments in the recent years, especially since the introduction of newborn screening in New York State. He has a been involved from the beginning in the development of the program and is active member of the NYS group of metabolic physicians taking care of these patients. In addtion he has been actively involved in all developments asscoiated with newborn screening for Krabbe disease and Pompe disease. Dr. Iglesias is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Hypotonia, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia.

David Trawick is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Rochester, New York. Dr. Trawick is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Asthma in Children, Asthma, Cerebral Hypoxia, Lung Metastases, and Gastrostomy.

Emily Hertzberg is a Pediatrics provider in New York, New York. Dr. Hertzberg is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Infant Botulism, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Carboxylase Deficiency, and Adenoidectomy.

Robert Holloway is a Palliative Medicine provider in Rochester, New York. Dr. Holloway is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Stroke, Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Gastrostomy, and Thrombectomy.

Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Breilyn is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency, and Phenylketonuria (PKU).

Julian Jr is an Internal Medicine provider in Buffalo, New York. Dr. Jr has been practicing medicine for over 47 years and is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Phosphoglycerate Kinase Deficiency, Glycogen Storage Disease Type 9, Phosphoglycerate Mutase Deficiency, and Adenosine Monophosphate Deaminase Deficiency.

Stephanie Jorgensen is a Pediatrics provider in Gansevoort, New York. Dr. Jorgensen is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Obesity in Children, Croup, Streptococcal Group A Infection, and Vascular Birthmark.

Chin-to Fong is a Medical Genetics specialist and a Pediatrics provider in Rochester, New York. Dr. Fong is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency.

John Rausch is an Internal Medicine provider in New York, New York. Dr. Rausch is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Obesity in Children, Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

Rachel Brozinsky is a Pediatrics provider in Astoria, New York. Dr. Brozinsky is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Multiple Pterygium Syndrome X Linked, Amniotic Band Syndrome, Multiple Pterygium Syndrome, and Popliteal Pterygium Syndrome.

Meyer Kattan is a Pediatrics provider in New York, New York. Dr. Kattan is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Asthma, Asthma in Children, Stridor, and Anemia. Dr. Kattan is currently accepting new patients.