Learn About Arginase Deficiency

What is the definition of Arginase Deficiency?

Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

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What are the causes of Arginase Deficiency?

Mutations in the ARG1 gene cause arginase deficiency.

How prevalent is Arginase Deficiency?

Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.

Is Arginase 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 Arginase Deficiency Local Doctors?
Elite
Highly rated in
13
conditions

Chuo Ku

Kumamoto, JP 86085

Jun Kido is in Kumamoto, Japan. Kido is rated as an Elite expert by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Arginase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, and Argininosuccinic Aciduria.

Distinguished
Highly rated in
1
conditions

University Of Glasgow

Glasgow, SCT, GB G128L

Yuan Sin is in Glasgow, United Kingdom. Sin is rated as a Distinguished expert by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Arginase Deficiency, Inborn Amino Acid Metabolism Disorder, and Spastic Paraparesis.

 
 
 
 
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Distinguished
Highly rated in
7
conditions
Pediatrics
Medical Genetics

UCLA Health System

Witherbee Foundation Children's Health Center

200 Ucla Medical Plz 
Los Angeles, CA 90095

Stephen Cederbaum is a Pediatrics specialist and a Medical Genetics doctor in Los Angeles, California. Dr. Cederbaum has been practicing medicine for over 58 years and is rated as a Distinguished doctor by MediFind in the treatment of Arginase Deficiency. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Arginase Deficiency, Inborn Amino Acid Metabolism Disorder, Citrullinemia, and Ornithine Transcarbamylase Deficiency. He is licensed to treat patients in California.

What are the latest Arginase Deficiency Clinical Trials?
Systemic Biomarkers of Brain Injury From Hyperammonemia
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Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders
Who are the sources who wrote this article ?

Published Date: August 01, 2013Published By: National Institutes of Health

What are the Latest Advances for Arginase 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.