Learn About N-Acetylglutamate Synthase Deficiency

View Main Condition: Urea Cycle Disorders (UCD)

What is the definition of N-Acetylglutamate Synthase Deficiency?

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.

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What are the causes of N-Acetylglutamate Synthase Deficiency?

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.

How prevalent is N-Acetylglutamate Synthase Deficiency?

N-acetylglutamate synthase deficiency is a very rare disorder. It is estimated to affect fewer than 1 in 2 million people worldwide.

Is N-Acetylglutamate Synthase Deficiency an inherited disorder?

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.

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What are the latest N-Acetylglutamate Synthase Deficiency Clinical Trials?
Orphan Europe Carbaglu® Surveillance Protocol

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...

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Hepatic Histopathology in Urea Cycle Disorders

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.

Who are the sources who wrote this article ?

Published Date: August 01, 2019Published By: National Institutes of Health

What are the Latest Advances for N-Acetylglutamate Synthase Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.