Learn About Adenylosuccinate Lyase Deficiency

What is the definition of Adenylosuccinate Lyase Deficiency?

Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.

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What are the causes of Adenylosuccinate Lyase Deficiency?

All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP that serve as energy sources in the cell. Adenylosuccinate lyase converts a molecule called succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and converts succinyladenosine monophosphate (SAMP) to adenosine monophosphate (AMP).

How prevalent is Adenylosuccinate Lyase Deficiency?

Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases have been reported. The condition is most common in the Netherlands and Belgium, but it has been found worldwide.

Is Adenylosuccinate Lyase 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 Adenylosuccinate Lyase Deficiency Local Doctors?
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Charles University And General University Hospital In Prague

Prague, PR, CZ 12808

Marie Zikanova is in Prague, Czech Republic. Zikanova is rated as an Elite expert by MediFind in the treatment of Adenylosuccinate Lyase Deficiency. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Adenylosuccinate Lyase Deficiency, Pseudoachondroplasia, Autism Spectrum Disorder, and Cortical Dysplasia.

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Highly rated in
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The Children's Memorial Health Institute

Gdansk, PM, PL 80308

Agnieszka Jurecka is in Gdansk, Poland. Jurecka is rated as a Distinguished expert by MediFind in the treatment of Adenylosuccinate Lyase Deficiency. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Mucopolysaccharidosis Type 6, Adenylosuccinate Lyase Deficiency, Mucopolysaccharidosis Type 2, and Mucopolysaccharidosis Type 7.

 
 
 
 
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Distinguished
Highly rated in
2
conditions

Charles University And General University Hospital In Prague

Prague, PR, CZ 12808

Veronika Baresova is in Prague, Czech Republic. Baresova is rated as a Distinguished expert by MediFind in the treatment of Adenylosuccinate Lyase Deficiency. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Adenylosuccinate Lyase Deficiency, Autosomal Dominant Tubulointerstitial Kidney Disease, GAPO Syndrome, and Autosomal Dominant Polycystic Kidney Disease.

What are the latest Adenylosuccinate Lyase Deficiency Clinical Trials?
Evaluation of a Treatment With Allopurinol on Autistic Disorders and Epilepsy in Adenylosuccinate Lyase Deficiency (ADSL)
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Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Adenylosuccinate Lyase 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.