Abstract
A patient with classical symptoms of non-ketotic hyperglycinaemia (NKH) is presented. Threonine dehydratase was undetectable in a liver autopsy specimen, which was obtained within 1 h of death and immediately frozen at −70 °C. Activities of four marker enzymes were normal. This represents the first documentation of an inborn error of threonine metabolism and a new explanation of NKH.
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Krieger, I., Booth, F. Threonine dehydratase deficiency: A probable cause of non-ketotic hyperglycinaemia. J Inherit Metab Dis 7, 53–56 (1984). https://doi.org/10.1007/BF01805800
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DOI: https://doi.org/10.1007/BF01805800