Learn About N-Acetylglutamate Synthase Deficiency
View Main Condition: Urea Cycle Disorders (UCD)
N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. This condition belongs to a class of genetic diseases called urea cycle disorders because they are caused by problems with a process in the body called the urea cycle. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle breaks down excess nitrogen, which is made when protein is used by the body, to make a compound called urea. Urea is removed from the body in urine.
N-acetylglutamate synthase deficiency is a very rare disorder. It is estimated to affect fewer than 1 in 2 million people worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Mendel Tuchman is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Tuchman is rated as an Elite provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are N-Acetylglutamate Synthase Deficiency, Urea Cycle Disorders (UCD), Carbamoyl Phosphate Synthetase 1 Deficiency, and Argininosuccinic Aciduria.
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 N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Cerebral Palsy, Jackson-Weiss Syndrome, Marshall Syndrome, and Van Maldergem Syndrome.
Advocate Medical Group Primary Care
Manish Patel is a primary care provider, practicing in Family Medicine in Elgin, Illinois. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Hereditary Hemorrhagic Telangiectasia, Telangiectasia, Anosmia, and Type 2 Diabetes (T2D).
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: The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food and Drug Administration (FDA) for treatment of acute hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency. Much of the FDA-required data is already collected through the Longitudinal Stu...
Published Date: August 01, 2019
Published By: National Institutes of Health