Electronic Resource
Springer
Journal of inherited metabolic disease
4 (1981), S. 207-210
ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A high-performance liquid-chromatographic method was used to separate and identify uracil, uridine, pseudouridine and orotic acid after preliminary extraction in two patients (McKusick 20780). Urinary uracil excretion was 10–35 times normal in both patients with arginase deficiency. Uridine and orotic acid, not normally detected, were excreted in large amounts and were directly influenced by protein intake. Their excretions were correlated with urinary arginine excretion. Urinary uracil levels remained consistently high and showed minimal variations with increased protein intake or urinary arginine levels. The measurement of urinary pyrimidines appears to be useful for the detection, differential diagnosis and dietary monitoring of patients with urea cycle disorders. The data presented extends this observation to include patients with arginase deficiency.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02263653
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