1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.
Clin Chem
; 45(4): 539-48, 1999 Apr.
Article
in En
| MEDLINE
| ID: mdl-10102915
ABSTRACT
BACKGROUND:
The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of 1H-NMR as a tool in evaluation of patients with these disorders.METHODS:
We performed 1H-NMR spectroscopy on 500 and 600 MHz instruments with a standardized sample volume of 500 microL. We studied body fluids from 25 patients with nine inborn errors of purine and pyrimidine metabolism.RESULTS:
Characteristic abnormalities could be demonstrated in the 1H-NMR spectra of urine samples of all patients with diseases in the pyrimidine metabolism. In most urine samples from patients with defects in the purine metabolism, the 1H-NMR spectrum pointed to the specific diagnosis in a straightforward manner. The only exception was a urine from a case of adenine phosphoribosyl transferase deficiency in which the accumulating metabolite, 2,8-dihydroxyadenine, was not seen under the operating conditions used. Similarly, uric acid was not measured. We provide the 1H-NMR spectral characteristics of many intermediates in purine and pyrimidine metabolism that may be relevant for future studies in this field.CONCLUSION:
The overview of metabolism that is provided by 1H-NMR spectroscopy makes the technique a valuable screening tool in the detection of inborn errors of purine and pyrimidine metabolism.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Purines
/
Pyrimidines
/
Metabolism, Inborn Errors
Limits:
Humans
Language:
En
Journal:
Clin Chem
Journal subject:
QUIMICA CLINICA
Year:
1999
Document type:
Article
Affiliation country:
Netherlands