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.
Hartford Healthcare Medical Group Inc
Andres Makarem is an Internal Medicine provider in West Hartford, Connecticut. Dr. Makarem and is rated as an Experienced provider by MediFind in the treatment of Arginase Deficiency. His top areas of expertise are Premature Ovarian Failure, Infertility, Hypogonadism Primary Partial Alopecia, and Wiskott-Aldrich Syndrome. Dr. Makarem is currently accepting new patients.
Prospect Ct Medical Foundation Inc
Jonathan Parkhurst is an Internal Medicine provider in Manchester, Connecticut. Dr. Parkhurst and is rated as an Experienced provider by MediFind in the treatment of Arginase Deficiency. His top areas of expertise are Collagenous Colitis, Vitamin D Deficiency, Spasmus Nutans, and Type 2 Diabetes (T2D).
Prospect Ct Medical Foundation Inc
Marc Raad is a Geriatrics specialist and an Internal Medicine provider in Manchester, Connecticut. Dr. Raad and is rated as an Experienced provider by MediFind in the treatment of Arginase Deficiency. His top areas of expertise are Obesity in Children, Painful Swallowing, Swallowing Difficulty, and Type 2 Diabetes (T2D).
Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Summary: This is an open-label, multicentre study to evaluate the safety, PK, and activity (PD) of weekly subcutaneous (SC) administration of pegzilarginase in subjects with ARG1-D who are \< 24 months of age. The study consists of a screening period of up to 4 weeks, a subsequent 12-week treatment period, and a safety follow-up period of 8 weeks.
Published Date: February 13, 2024
Published By: National Institutes of Health