What are the metabolic disorders under the PUMPA umbrella?
Disorders arising from defects (mutations) in genes coding for steps in the complex chemical network which makes our vital nucleotides. Purine nucleotides such as ATP (adenosine triphosphate) supply our body energy and repair our cell membranes. Purines and pyrimidines are also the building blocks of our DNA: purine nucleotides providing the As and Gs, pyrimidines the Ts and Cs, of our body’s genetic ‘library’. Inability to make a specific nucleotide can damage blood cells and cause severe untreatable anaemia. Without ATP any cell will die. Faults in purine steps which recycle waste from daily cell death/turnover can produce, for example: • bizarre neurological deficits, as in Lesch-Nyhan Disease • an immunodeficiency disorder ‘baby in the bubble’ syndrome which kills our body’s white cells which resist infection • too much uric acid, which causes gout and sometimes severe kidney damage in babies and children as well as adults.
