Learn About Argininosuccinic Aciduria

What is the definition of Argininosuccinic Aciduria?

Argininosuccinic aciduria is an inherited disorder that causes 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 nervous system is especially sensitive to the effects of excess ammonia.

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What are the causes of Argininosuccinic Aciduria?

Mutations in the ASL gene cause argininosuccinic aciduria. 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. Breaking down excess nitrogen and excreting it as urea prevents it from accumulating in the body as ammonia.

How prevalent is Argininosuccinic Aciduria?

Argininosuccinic aciduria occurs in approximately 1 in 70,000 to 218,000 newborns. Most cases of this condition are detected shortly after birth by newborn screening.

Is Argininosuccinic Aciduria 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 Argininosuccinic Aciduria Local Doctors?
Elite
Highly rated in
12
conditions

University College London

Metabolic Medicine Department 
London, ENG, GB WC1N3

Julien Baruteau is in London, United Kingdom. Baruteau is rated as an Elite expert by MediFind in the treatment of Argininosuccinic Aciduria. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Argininosuccinic Aciduria, Neonatal Hemochromatosis, Inborn Amino Acid Metabolism Disorder, and Carbamoyl Phosphate Synthetase 1 Deficiency.

Elite
Highly rated in
11
conditions

University College London

Mrc Antiviral Gene Therapy Research Unit, Faculty Of Health Sciences 
Johannesburg, GT, ZA 2193

Simon Waddington is in Johannesburg, South Africa. Waddington is rated as an Elite expert by MediFind in the treatment of Argininosuccinic Aciduria. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Argininosuccinic Aciduria, Dravet Syndrome, Ornithine Transcarbamylase Deficiency, and Epilepsy with Myoclonic-Atonic Seizures.

 
 
 
 
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Distinguished
Highly rated in
26
conditions

University Of Heidelberg

Division Of Child Neurology And Metabolic Medicine 
Heidelberg, BW, DE 

Stefan Kolker is in Heidelberg, Germany. Kolker is rated as a Distinguished expert by MediFind in the treatment of Argininosuccinic Aciduria. He is also highly rated in 26 other conditions, according to our data. His top areas of expertise are Inborn Amino Acid Metabolism Disorder, Argininosuccinic Aciduria, Glutaric Acidemia Type 1, and Propionic Acidemia.

What are the latest Argininosuccinic Aciduria 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: March 01, 2020Published By: National Institutes of Health

What are the Latest Advances for Argininosuccinic Aciduria?
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
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