Learn About N-Acetylglutamate Synthase Deficiency

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.

The signs and symptoms of N-acetylglutamate synthase deficiency often become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have difficulty controlling his or her breathing rate or body temperature. Severely affected babies may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability.

In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency do not appear until later in life. Some people with this form of the disorder notice that eating high-protein foods, such as meat, affects how they feel, although they may not know why. In many affected adults, illness or other stress can trigger episodes of vomiting, lack of coordination, headaches, confusion, behavioral changes, or coma.

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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.

The NAGS gene provides instructions for making the enzyme N-acetylglutamate synthase, which is integral to the first step of the urea cycle.

In people with N-acetylglutamate synthase deficiency, N-acetylglutamate synthase is not available in sufficient quantities, or is not present at all. As a result, the urea cycle is impaired, and nitrogen is not broken down efficiently. The excess nitrogen accumulates in the blood in the form of ammonia. This buildup of ammonia damages tissues in the brain and causes neurological problems and other signs and symptoms of N-acetylglutamate synthase deficiency.

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.

Who are the top N-Acetylglutamate Synthase Deficiency Local Doctors?
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15
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University Children's Hospital Zurich

Zurich, ZH, CH 

Johannes Haberle is in Zurich, Switzerland. Haberle is rated as an Elite expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are N-Acetylglutamate Synthase Deficiency, Inborn Amino Acid Metabolism Disorder, Carbamoyl Phosphate Synthetase 1 Deficiency, and Argininosuccinic Aciduria.

Distinguished
Highly rated in
7
conditions
Medical Genetics

George Washington University

Washington, DC 

Mendel Tuchman is a Medical Genetics doctor in Washington, Washington, D.c.. Dr. Tuchman is rated as a Distinguished doctor by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are N-Acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, and Inborn Amino Acid Metabolism Disorder. He is licensed to treat patients in District of Columbia.

 
 
 
 
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Distinguished
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140
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Geriatrics

Professional Health Care Of Pinellas

St. Petersburg, FL 

Fadi Saba is a Geriatrics doctor in St. Petersburg, Florida. Dr. Saba has been practicing medicine for over 29 years and is rated as a Distinguished doctor by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. He is also highly rated in 140 other conditions, according to our data. His top areas of expertise are Urinary Tract Infection in Children, Urinary Tract Infection, Type 2 Diabetes, and Arginase Deficiency. He is board certified in Internal Medicine and licensed to treat patients in Florida. Dr. Saba is currently accepting new patients.

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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.