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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (PRPPS)

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (PRPPS)
PRPS1 SUPERACTIVITY
300661
OMIM = Online Mendelian Inheritance of Men
3222
Ribose-phosphate diphosphokinase (Phosphoribosyl pyrophosphate synthetase)
2.7.6.1
Xq22.3
E79.8
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)
Laboratory findingsHypoxanthine inc (urine)
    Oxypurinol (Allopurinol-metabolite) normal/inc (urine)
    Uric acid normal/inc (plasma)
    Uric acid inc (urine)
Symptoms    ataxia
    developmental delay
    dysmorphism
    gout
    hearing defect, deafness
    hyperuricemia
    hypotonia
    infections (severe or recurrent)
    intellectual disability/intellectual developmental disorder
    mental retardation
    motor retardation
    onset, adolescent
    onset, childhood
    onset, infancy
    optic atrophy
    renal failure, acute/chronic
    urolithiasis, nephrolithiasis, kidney stones