Phosphoglycerate Kinase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Phosphoglycerate Kinase Deficiency
Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.
Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.
Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature.
This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Females with one altered PGK1 gene, however, may have some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Angel Pey practices in Granada, Spain. Pey is rated as an Elite expert by MediFind in the treatment of Phosphoglycerate Kinase Deficiency. Their top areas of expertise are Phosphoglycerate Kinase Deficiency, Primary Hyperoxaluria, Primary Hyperoxaluria Type 1, and Homocystinuria.
Neuromuscular Research Center
Kumaraswamy Sivakumar is a Neurologist in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Phosphoglycerate Kinase Deficiency. His top areas of expertise are Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Pompe Disease. Dr. Sivakumar is currently accepting new patients.
Rubenstein Child Health Building
Recognized as a dedicated and compassionate pediatric hematologist-oncologist, Dr. Keates-Baleeiro cares for patients in the Division of Pediatric Hematology at Johns Hopkins Children’s Center in Baltimore, Maryland. A pediatric hematologist-oncologist is a physician who has special training and experience in diagnosing and treating blood disorders and cancers in children, teens, and young adults. Dr. Keates-Baleeiro’s current clinical interests include pediatric cytopenias, coagulation disorders, platelet disorders, sickle-cell anemia, and hemophilia. Her research interests include rare bleeding disorders, porphyria, and neutropenia in children. Dr. Keates-Baleeiro received her medical degree from the Drexel University College of Medicine in 1999 and completed her internship at Cohen Children’s Medical Center and her pediatric residency at Children’s Hospital of Michigan in Detroit in 2002. She then went on to complete a fellowship in pediatric hematology-oncology at the University of Michigan’s C.S. Mott Children’s Hospital and Vanderbilt University Medical Center in 2003 and 2006, respectively. Passionate about teaching, Dr. Keates-Baleeiro also serves as an Assistant Professor of Pediatrics at the Johns Hopkins School of Medicine educating medical students, pediatric residents, and pediatric hematology oncology fellows. Dr. Keates is rated as an Advanced provider by MediFind in the treatment of Phosphoglycerate Kinase Deficiency. Her top areas of expertise are Phosphoglycerate Kinase Deficiency, Sickle Cell Disease, Hemoglobin SC Disease, and Infantile Neutropenia.
Published Date: December 01, 2011
Published By: National Institutes of Health