Pyruvate Carboxylase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Pyruvate Carboxylase Deficiency
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
Mutations in the PC gene cause pyruvate carboxylase deficiency. This gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions, including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters that allow nerve cells to communicate with one another.
Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. Type A appears to be much more common in some Algonkian Indian tribes in eastern Canada.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
East Ann Arbor Ambulatory Surgery & Medical Procedures Center
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.
Saint Lukes Physician Group Inc
Andrew Sauer is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist practicing medicine in Overland Park, Kansas. Dr. Sauer is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Heart Failure with Preserved Ejection Fraction (HFpEF), Cardiomyopathy, Heart Transplant, and Colonoscopy. Dr. Sauer is currently accepting new patients.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
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.
Published Date: August 01, 2017
Published By: National Institutes of Health