PURINES AND PYRIMIDINES, URINE

New Test in CIC Catalog

Test Code: 4013

Sample:	Urine (10 ml)
Conservation:	Frozen
Method:	High Performance Liquid Chromatography (LOINC®: HPLC)
Set Up Days:	Daily
TAT (Days):	12 days
Information:
a) The purine and pyrimidine synthesis are endogenous molecules which are part of the nucleic acids (DNA, RNA), nucleotides (ATP, GTP, ...) and coenzyme (NAD FAD). b. In the urine of the reference population can be observed a characteristic profile of Excretion of these molecules, in which one can appreciate the presence of creatinine, uracil, pseudouridine, uric acid, hypoxanthine, xanthine, benzoate and hippurate, although can appear multiple interference of dietary origin (fruits, jams, soft drinks, coffee, chocolate, etc..). c. In recent years several studies have described inborn errors of metabolism associated with these molecules, with very different clinical presentations: boxes of neurological (epilepsy, mental retardation and autism), immunodeficiency severe combined (T and B lymphocytes) and cellular (T lymphocytes) and lithiasis. d. In these conditions one can observe a characteristic pattern of excretion in urine.

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