Threonine dehydratase deficiency: A probable cause of non‐ketotic hyperglycinaemia
- 14 June 1983
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 7 (2), 53-56
- https://doi.org/10.1007/bf01805800
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.This publication has 19 references indexed in Scilit:
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