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There is likely to be an cell membrane adenosine salvage transporter system failure here. The loss of body adenosine means it has to be re-synthesised to novo, an energy dependent system. Without sufficient adenosine, then less available to make ATP. I’m not sure if ribose helps.
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SLC29A1 mutation for ENT1 (adenosine reuptake transporter) present in 2/3 of my patients, the severer cases being homozygous for this anomaly. The SCL28A1 mutation was one of the top mutation separating cases from controls.
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