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Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions

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  • Published:
Journal of Inherited Metabolic Disease

Summary

Purine inborn errors of metabolism (IEM) are serious hereditary disorders, which should be suspected in any case of neonatal fitting, failure to thrive, recurrent infections, neurological deficit, renal disease, self-mutilation and other manifestations. Investigation usually starts with uric acid (UA) determination in urine and plasma. UA, the final product of purine metabolism in humans, may be altered not only in purine IEM, but also in other related pathologies and clinical conditions. However, data and information about abnormal UA levels are scattered in the literature, often being controversial and confusing. A comprehensive overview has been elaborated, according to abnormal UA levels in urine and plasma, which associates these alterations with purine IEM. Other possible diseases, clinical conditions, diet and drug intake, related to the metabolism of uric acid, are also presented. The article includes tables that classify the disorders according to different patterns of UA alterations, with pertinent enzymes, clinical symptoms, inheritance and comments. Additionally, summarized pathophysiological mechanisms of important disorders are described. The overview is intended to assist in the interpretation of the results of UA analyses. It demonstrates that variation of UA concentrations in urine and plasma may constitute an effective tool in screening for purine IEM and other related pathological conditions.

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Abbreviations

ADA:

adenosine deaminase

ADSL:

adenylosuccinate lyase

APRT:

adenine phosphoribosyltransferase

FJHN:

familial juvenile hereditary nephropathy

GSD:

glycogen storage disease

Gua:

guanine

HDL:

high-density lipoprotein

HPRT:

hypoxanthine–guanine phosphoribosyltransferase

Hx:

hypoxanthine

IEM:

inborn errors of metabolism

IMP:

inosine monophosphate

LND:

Lesch–Nyhan disease

MAD:

myoadenylate deaminase

MCAD:

medium-chain acyl-CoA dehydrogenase

PNP:

nucleoside phosphorylase

PP-R-P:

5-phosphoribosyl-1-pyrophosphate

PRS:

5-phosphoribosyl-1-pyrophosphate synthetase

UA:

uric acid

Xa:

xanthine

XDH:

xanthine dehydrogenase

XO:

xanthine oxidase

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Authors and Affiliations

  1. Laboratório de Erros Inatos do Metabolismo (LABEIM), Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil

    R. E. Simoni, F. B. Scalco, C. P. H. Oliveira & M. L. Costa de Oliveira

  2. Laboratório de Apoio ao Desenvolvimento Tecnológico (LADETEC)/LABDOP, Departamento de Química Orgânica, Instituto de Química, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil

    L. N. L. Ferreira Gomes & F. R. Aquino Neto

  3. Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro (UFRJ), Cidade Universitária, Ilha do Fundão, Centro de Tecnologia, Bloco A, 21941-900, Rio de Janeiro, Brazil

    M. L. Costa de Oliveira

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References to electronic databases: OMIM 300322; OMIM 229600; OMIM 603027; OMIM 232400; OMIM 232600; OMIM 232800; OMIM 201450; OMIM 220150; OMIM 232200; OMIM 162000; OMIM 164050; OMIM 278300.

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Simoni, R.E., Ferreira Gomes, L.N.L., Scalco, F.B. et al. Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions. J Inherit Metab Dis 30, 295–309 (2007). https://doi.org/10.1007/s10545-007-0455-8

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