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Summary
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (PRPPS)
PRPS1 SUPERACTIVITY
300661
OMIM = Online Medalian Inheritance of Men
3222
Xq22.3
  • allopurinol
  • high fluid intake
  • low-purine diet
  • potassium citrate
  • sodium bicarbonate
rare
X-linked recessive
mutations in the X-chromosomal gene PRPS1
- infantile or early-childhood onset (severe phenotype)
- late-juvenile or early-adult onset (milder phenotype)
symptoms
ataxia
developmental delay
dysmorphism
gout
hearing defect, deafness
hyperuricemia
hypotonia
infections (severe or recurrent)
intellectual disability/intellectual developmental disorder (ID/ IDD)
mental retardation
motor retardation
onset, adolescent
onset, childhood
onset, infancy
optic atrophy
renal failure, acute/chronic
urolithiasis, kidney stones
laboratory finding
Uric acid1000.002000.00820.001026.00mmol/mol creatinineurineinfancy
Uric acid100.001500.00120.00350.00+€mol/lplasma
Hypoxanthine100.00500.00 mmol/mol creatinineurine
Oxypurinol (Allopurinol-metabolite)0.00100.00 mmol/mol Creaurine
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
Mimaki M,et al.Reversible infantile respiratory chain deficiency: a clinical and molecular studyAnn Neurol686845-8542010
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
Bousema S,et al.Kernicterus is preventable but still occursNed Tijdschr Geneeskd1590A85182015
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
Willemsen MA,et al.Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndromeEur J Hum Genet256771-7742017
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993