Arginase DeficiencySymptoms, Doctors, Treatments, Advances & More
Arginase Deficiency Overview
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 practicing medicine in Los Angeles, California. Dr. Cederbaum is rated as an Elite provider by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Arginase Deficiency, Urea Cycle Disorders (UCD), Phenylketonuria (PKU), and Argininosuccinic Aciduria.
Roberto Zori is a Medical Genetics provider practicing medicine in Gainesville, Florida. Dr. Zori is rated as an Elite provider by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Arginase Deficiency, Urea Cycle Disorders (UCD), and Early Infantile Epileptic Encephalopathy. Dr. Zori is currently accepting new patients.
Lpch Medical Group Div Of Lucile
Gregory Enns is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Palo Alto, California. Dr. Enns is rated as an Elite provider by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 52 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Arginase Deficiency, and Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency. Dr. Enns is currently accepting new patients.
Summary: Arginase 1 deficiency (ARG1-D) is a rare condition in which the body cannot properly break down a substance called arginine. This leads to high levels of arginine and related substances in the blood, which can cause serious health problems and reduce quality of life. Loargys is a new treatment designed to lower arginine levels in people with ARG1-D. It works by providing a modified version of a na...
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.
Published Date: February 13, 2024
Published By: National Institutes of Health