<unk>  is caused by a loss of function mutation in the PRPS1 gene. The PRPS1 gene codes for the enzyme phosphoribosyl pyrophosphate synthetase 1 or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines which are the building blocks of DNA, RNA, ATP and other molecules. The mutations that cause<unk>  replace single amino acids the PRPP synthetase 1 enzyme. The resulting enzyme is unstable. Disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system, resulting in the neurological problems characteristic of<unk> . The reason for the increased risk of respiratory infections in<unk>  is unclear. Novel missense mutation - c.367C>G (p.His123Asp) c.455T→C (p. L152P), c.398A→C (p.Q133P) p. Ile275Thr and p.Gly306Glu
Arts syndrome
Saal Greenstein syndrome
Crandall syndrome
Havana syndrome
Mietens syndrome
PAPA syndrome
Currarino syndrome
Bruck syndrome