N-Acetylglutamate Synthase DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
Childrens National Med Ctr
Mendel Tuchman is a Pediatrics provider practicing medicine in Washington, Washington, D.c.. Dr. Tuchman is rated as an Elite provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses N-Acetylglutamate Synthase Deficiency, Urea Cycle Disorders (UCD), Carbamoyl Phosphate Synthetase 1 Deficiency, and Argininosuccinic Aciduria.
Renuven Health Partners
. Dr. Smith is rated as an Experienced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Anemia, Nephrosclerosis, Renovascular Hypertension, and Hypertensive Heart Disease. Dr. Smith is board certified in American Board Of Internal Medicine.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
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