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.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
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, Ornithine Transcarbamylase Deficiency, Biotinidase Deficiency, and Multiple Sulfatase Deficiency.
Duke University Hospital
Dwight Koeberl is a Medical Genetics specialist and a Pediatrics provider in Durham, North Carolina. 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 Propionic Acidemia. Dr. Koeberl is currently accepting new patients.
Rubenstein Child Health Building
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.
Published Date: August 01, 2017
Published By: National Institutes of Health