Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency

@article{Riudor1995MetabolicCW,
  title={Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency},
  author={Encarnaci{\'o} Riudor and A Garc{\'i}a Ribes and Celia P{\'e}rez-Cerd{\'a} and Jos{\'e} Antonio Arranz and Jaume Mora and Diego Yeste and Francesco Castello and Benedicte Christensen and Oddmund S\ovik},
  journal={Journal of Inherited Metabolic Disease},
  year={1995},
  volume={18},
  pages={748-749}
}
The clinical features of 2-methylacetoacetyl-CoA (2MAA-CoA) thiolase (EC 2.3.1.9) deficiency (McKusick 203750) range from severe recurrent ketoacidosis with vomiting, diarrhoea and coma in infants to an asymptomatic course in adults (Sweetman and Williams 1995). The metabolic coma of children with ketoacidosis and normo/hyperglycaemia is common to diabetes, maple syrup urine disease, organic acidurias, intoxications and defects of ketolysis (Saudubray and Charpentier 1995). We report a 14-month… CONTINUE READING

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