Threonine Dehydratase Deficiency: a Probable Cause of Non-ketotic Hyperglycinaemia

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1984 Jan 1

PMID 6434824

Citations 3

Authors

I Krieger

F Booth

Affiliations

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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 degrees 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.

Citing Articles

Crystal structure of the pyridoxal-5'-phosphate-dependent serine dehydratase from human liver.

Sun L, Bartlam M, Liu Y, Pang H, Rao Z Protein Sci. 2005; 14(3):791-8.

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Non-ketotic hyperglycinaemia: clinical and biochemical aspects.

Tada K, Hayasaka K Eur J Pediatr. 1987; 146(3):221-7.

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The biochemical basis of mitochondrial diseases.

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