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Author Spotlight: Advancing Cellular and Protein Engineering to Control Biological Functions and Develop Novel Therapies

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Published on: September 27, 2024

Adenylosuccinate lyase deficiency.

Agnieszka Jurecka¹, Marie Zikanova, Stanislav Kmoch

¹Department of Genetics, University of Gdańsk, ul. Wita Stwosza 59, 80-308, Gdańsk, Poland, ajurecka@gmail.com.

Journal of Inherited Metabolic Disease

|August 13, 2014

Summary

Adenylosuccinate lyase (ADSL) deficiency disrupts purine metabolism, impacting purinosome assembly and causing neurological symptoms. Diagnosis involves detecting specific metabolites and genetic mutations, with no effective therapy currently available.

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Area of Science:

Biochemistry
Genetics
Metabolic Disorders

Background:

Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder affecting purine metabolism.
It impairs purinosome assembly and alters metabolite fluxes in de novo purine synthesis and nucleotide recycling.
The condition is biochemically marked by elevated levels of SAICAr and S-Ado in biological fluids.

Purpose of the Study:

To summarize the biochemical and clinical features of ADSL deficiency.
To highlight diagnostic methods and the current understanding of ADSL mutations.
To underscore the lack of effective therapeutic options.

Main Methods:

Biochemical analysis of biological fluids (plasma, CSF) for SAICAr and S-Ado.
Genomic and cDNA sequencing to identify ADSL mutations.
Characterization of identified mutations' effects on protein function and purinosome assembly.

Main Results:

Over 80 individuals with ADSL deficiency identified, but incidence remains unknown.
A wide spectrum of clinical presentations, from fatal neonatal forms to milder types with neurological impairments.
Over 50 ADSL mutations identified, with characterized impacts on protein stability, activity, and purinosome assembly.

Conclusions:

ADSL deficiency is a significant purine metabolism disorder with diverse clinical outcomes.
Diagnosis relies on metabolite detection and genetic analysis.
Current therapeutic strategies are lacking for ADSL deficiency.