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GENATLAS PHENOTYPE
last update : 10-04-2020
Symbol URCTU
Location 15q25.3
Name Uridine-cytidineuria
Corresponding gene SLC28A1
Main clinical features
  • strongly elevated urinary excretion of uridine and cytidine; plasma levels of uridine were normal, and of cytidine only slightly elevated
  • patient pauci-symptomatic
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Remark(s)