Pseudoxanthoma ElasticumSymptoms, Doctors, Treatments, Advances & More
Learn About Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body.
Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to transport certain substances across the cell membrane; however, the substances have not been identified. Some studies suggest that the MRP6 protein stimulates the release of a molecule called adenosine triphosphate (ATP) from cells through an unknown mechanism. ATP can be broken down into other molecules, including adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate helps control deposition of calcium and other minerals in the body. Other studies suggest that a substance transported by MRP6 is involved in the breakdown of ATP. This unidentified substance is thought to help prevent mineralization of tissues.
PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males.
PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Frank Holz practices practicing medicine in Bonn, Germany. Mr. Holz is rated as an Elite expert by MediFind in the treatment of Pseudoxanthoma Elasticum. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), Geographic Atrophy, Vitrectomy, and Trabeculectomy.
Olivier Vanakker practices practicing medicine in Gent, Belgium. Mr. Vanakker is rated as an Elite expert by MediFind in the treatment of Pseudoxanthoma Elasticum. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Pseudoxanthoma Elasticum, Cutis Laxa, Acropectoral Syndrome, and Acro-Pectoro-Renal Field Defect.
Paul Coucke practices practicing medicine in Gent, Belgium. Mr. Coucke is rated as an Elite expert by MediFind in the treatment of Pseudoxanthoma Elasticum. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Pseudoxanthoma Elasticum, Arterial Tortuosity Syndrome, Cutis Laxa, and Osteogenesis Imperfecta.
Summary: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by ectopic calcifications in the skin, retina and arterial walls. Angers University Hospital is the national rare disease reference center (CRMR) for PXE. Although PXE is hereditary, its main clinical manifestations (unsightly skin lesions, intermittent arterial claudication, stroke, retinal bleeding and blindness) are delayed...
Summary: The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.
Published Date: January 01, 2015
Published By: National Institutes of Health