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6‐Methyluracil excretion in 2‐methylacetoacetyl‐CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia
Author(s) -
Cromby C. H.,
Manning N. J.,
Pollitt R. J.,
Powell S.,
Bennett M. J.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00735400
Subject(s) - thiolase , urine , creatinine , medicine , etiology , excretion , galactosemia , endocrinology , ketosis , metabolic disorder , gastroenterology , biology , biochemistry , diabetes mellitus , peroxisome , receptor , galactose
Summary 6‐Methyluracil (6MU) has been identified in urine collected during acute illness in two children with β‐ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection‐related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU were not detected in children with fasting ketosis in whom a metabolic disorder was excluded (normal levels less than 25 µmol/mmol creatinine). We propose that the production of 6MU may be related to the accumulation of acetoacetyl‐CoA and thus be a marker for disorders where this occurs.