Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases

Abstract excerpt

De novo synthesis of purines (DNPS) is a biochemical pathway that provides the purine bases for synthesis of essential biomolecules such as nucleic acids, energy transfer molecules, signaling molecules and various cofactors. Inborn errors of DNPS enzymes present with a wide spectrum of neurodevelopmental and neuromuscular abnormalities and accumulation of characteristic metabolic intermediates of the DNPS in body...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adenosine and Purinergic Signaling
• Share to Biochemical and Molecular Research
• Share to Folate and B Vitamins Research