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Summary
NUCLEOTIDE DEPLETION SYNDROME
  • uridine
Reported patients by Page T et al. 1997 most closely resemble the patient reported by Wada et al. 1974, who was found to have a deficiency of PRPP synthetase.
symptoms
ataxia
behavior, hyperactive, restless
infections (severe or recurrent)
mental retardation
onset, infancy
seizures
sparse or absent scalp hair (focal or general)
speech development, delayed, abnormal
laboratory finding
EEG abnormalities -
Uric acid0.000.00 decreasedurineno data
5-Nucleotidase increased activityfibroblasts
Literature
Elder GHHepatic porphyrias in childrenJ Inherit Metab Dis200237-2461997