Abstract
Previously, two of us (D.M.D. and P.T.) have described a new form of prolonged transient tyrosinemia in a young baby biochemically characterized by a severe metabolic acidosis and striking p-hydroxyphenyl-lactic and p-hydroxyphenylpyruvic aciduria with only mild tyrosinemia. (Acta Paediatr. Scand. 64:209, 1975). In addition, the patient and her mother excreted an unknown compound in urine.
This compound was isolated from the mother's urine and identified by gas chromatography - mass spectrometry, chemical degradation, and comparison with the synthesized reference compound as 2-(S-cysteinyl)-1-carboxymethyl-1,4-dihydroxy-cyclohexen-5. It is a reduced cysteine adduct of 2-(1-hydroxy-4-oxo-2,5-cyclohexadien-1-yl)-acetic acid, a quinol postulated as an intermediate in the oxidation of p-hydroxyphenylpyruvic acid. The nature of this intermediate metabolite together with further biochemical studies probably will help to clarify the still obscure mechanism of enzymatic p-hydroxyphenylpyruvate hydroxylation.
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Niederwieser, A., Matasović, A., Tippett, P. et al. 180: A HEREDITARY DEFECT OF THE TRANSFORMATION OF P-HYDROXYPHENYLPYRUVATE INTO HOMOGENTISIC ACID. Pediatr Res 10, 900 (1976). https://doi.org/10.1203/00006450-197610000-00171
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DOI: https://doi.org/10.1203/00006450-197610000-00171
