Cytosine and orotic acid in urine of immunodeficient children

G. C. Mills, F. C. Schmalstieg, K. E. Newkirk, R. M. Goldblum

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19 Scopus citations


The authors describe procedures for determining cytosine and orotic acid in urine. They determine cytosine by cation-exchange analysis with either HCl or a pH 5.2 buffer as eluent. Orotic acid is first separated by an anion-exchange separative procedure; after lyophilization, the product is subjected to 'high-pressure' liquid chromatography for further separation and detection. Three children with severe combined immunodeficiency had increased levels of cytosine in the urine (23-160 mmol/mol creatinine); one child with severe combined immunodeficiency and two children with other immunodeficiencies had normal urinary levels (<2 mmol/mol creatinine). Orotic acid excretion in urine was normal (1-5 mmol/mol creatinine) in all of the immunodeficient children. The possible significance of the increased cytosine excretion in the three children with severe combined immunodeficiency is discussed.

Original languageEnglish (US)
Pages (from-to)419-424
Number of pages6
JournalClinical chemistry
Issue number3
StatePublished - 1979
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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