6‐Methyluracil excretion in 2‐methylacetoacetyl‐CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia | Zendy

Cromby C. H. | Zendy; Manning N. J. | Zendy; Pollitt R. J. | Zendy; Powell S. | Zendy; Bennett M. J. | Zendy

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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.

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