Learn About Arginase Deficiency
View Main Condition: Urea Cycle Disorders (UCD)
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Arginase deficiency is caused by variants (also called mutations) in the ARG1 gene. This gene provides instructions for making an enzyme called arginase.
Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Stephen Cederbaum is a Medical Genetics provider in Los Angeles, California. Dr. Cederbaum is rated as an Elite provider by MediFind in the treatment of Arginase Deficiency. His top areas of expertise are Arginase Deficiency, Urea Cycle Disorders (UCD), Phenylketonuria (PKU), and Argininosuccinic Aciduria.
Roberto Zori is a Medical Genetics provider in Gainesville, Florida. Dr. Zori is rated as an Elite provider by MediFind in the treatment of Arginase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Arginase Deficiency, Urea Cycle Disorders (UCD), and Early Infantile Epileptic Encephalopathy. Dr. Zori is currently accepting new patients.
Aurora Family Medicine
David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Arginase Deficiency. His top areas of expertise are Cerebral Palsy, Jackson-Weiss Syndrome, Marshall Syndrome, and Van Maldergem Syndrome.
Summary: This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis. This study will be conducted at all Urea Cycle Disorders Consortium (UCDC) sites: Baylor College of Medicine in Houston, TX and Children's National Medical Center in Washington D.C.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: February 13, 2024
Published By: National Institutes of Health