NUCLEOTIDE DEPLETION SYNDROME

Question 1

What is  NUCLEOTIDE DEPLETION SYNDROME?

Accepted Answer

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.

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Nukleotid-Depletions-Syndrom

Disease	NUCLEOTIDE DEPLETION SYNDROME
Gene locus
ICD
Summary	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.
Laboratory findings	5'-Nucleotidase inc (fibroblasts) S-Adenosylmethionine inc (plasma) Uric acid dec (urine)
Symptoms	ataxia behavior, hyperactive, restless EEG abnormalities [-] infections (severe or recurrent) mental retardation onset, infancy seizures sparse or absent scalp hair (focal or general) speech development, delayed, abnormal