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We've added another member to our family!

rarebirdsadsl
May 28, 2025
1 min read

The family of course, is Disorders of Purine Metabolism or DPM. Dr. Marie Zikanova, a Scientific Advisor for Rare Birds Foundation, and her team in the Czech Republic have identified two cases of a fourth DPM called PFAS Deficiency.



Purine de novo synthesis and its defects. Purine de novo synthesis consists of a series of 10 enzymatic reactions catalysed by six key enzymes.
Purine de novo synthesis and its defects. Purine de novo synthesis consists of a series of 10 enzymatic reactions catalysed by six key enzymes.

The image above outlines the purine pathway as it is meant to proceed. The 4 DPM's are shown in orange, each signifying a 'break' in the chain caused by a different enzyme deficiency.


Dr. Zikanova's work is crucial in understanding the complex processes and reactions that make up what we call the purinosome.


Congratulations to Dr. Zikanova and her team!



Read the journal article in JIMD here:


 
 
 

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This site is intended to provide basic educational information about Adenylosuccinate Lyase Deficiency Disorder (ADSLD). It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action regarding medical treatment or otherwise based on the information on this website without first consulting a physician.

 

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