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.
Suburban Geriatrics Inc
Robert Pearlstein is a primary care provider, practicing in Geriatrics and Internal Medicine in Plymouth Meeting, Pennsylvania. Dr. Pearlstein is rated as an Advanced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 180 other conditions, according to our data. His clinical expertise encompasses Dementia, Alzheimer's Disease, Painful Swallowing, Gastrostomy, and Endoscopy. Dr. Pearlstein is board certified in . Dr. Pearlstein is currently accepting new patients.
Johnson City Internal Medicine
Jeremy Elliott is a primary care provider, practicing in Family Medicine in Johnson City, Tennessee. Dr. Elliott is rated as an Experienced 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 Type 2 Diabetes (T2D), Glucocorticoid-Remediable Aldosteronism, Hypertension, and Familial Hypertension. Dr. Elliott is board certified in American Osteopathic Board Of Family Physicians. Dr. Elliott is currently accepting new patients.
Johnson City Internal Medicine
Mark Williams is a primary care provider, practicing in Internal Medicine in Johnson City, Tennessee. Dr. Williams is rated as an Experienced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Sitosterolemia, Undifferentiated Connective Tissue Disease (UCTD), High Cholesterol, and Psoriatic Arthritis. Dr. Williams is board certified in American Board Of Internal Medicine. Dr. Williams is currently accepting new patients.
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