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.
Northern Virginia
Natasha Shur is a Pediatrics provider practicing medicine in Fairfax, Virginia. Dr. Shur is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), and Increased Head Circumference. Dr. Shur is board certified in American Board Of Medical Genetics And Genomics, 2007 and Clinical Genetics (MD): American Board Of Medical Genetics And Genomics, 2018.
East Ann Arbor Ambulatory Surgery & Medical Procedures Center
Allison Schulman is a Gastroenterologist practicing medicine in Ann Arbor, Michigan. 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, Hereditary Pancreatitis, Choledocholithiasis, Gastric Bypass, and Endoscopy. Dr. Schulman is board certified in Gastroenterology. Dr. Schulman is currently accepting new patients.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. 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. Dr. Narumanchi is currently accepting new patients.
Published Date: August 01, 2017
Published By: National Institutes of Health