<unk>  should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance. Sequence analysis of PRPS1, the only gene associated with<unk> , has detected mutations in both kindreds reported to date.<unk>  patients were also found to have reduced levels of hypoxanthine levels in urine and uric acid levels in the serum. In vitro, PRS-1 activity was reduced in erythrocytes and fibroblasts.
Arts syndrome
Saal Greenstein syndrome
Crandall syndrome
Havana syndrome
Mietens syndrome
PAPA syndrome
Currarino syndrome
Bruck syndrome