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Summary
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
311850
OMIM = Online Medalian Inheritance of Men
Xq22-q24

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • allopurinol
  • high fluid intake
  • low-purine diet
  • potassium citrate
  • sodium bicarbonate
rare X-linked
symptoms
ataxia
dysmorphism
gout
hearing defect, deafness
motor retardation
onset, child
onset, infant
renal failure, acute/chronic
urolithiasis
laboratory finding
Uric acid 820.001026.00increasedurine
Uric acid 0.605.50normal/increasedserum
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993