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Non-ketotic hyperglycinaemia: clinical and biochemical aspects

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Abstracts

Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism characterized by elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The fundamental defect was found to lie in the glycine cleavage system. It is of significance that the major pathway for the catabolism of glycine was elucidated through the studies of hyperglycinaemia. The present knowledge about non-ketotic hyperglycinaemia is described in clinical and biochemical aspects.

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Article Open access 17 November 2022

S. Bhumika, Kanthesh M. Basalingappa, … Suman Basavaraju

Abbreviations

NKH:

non-ketotic hyperglycinaemia

CSF:

cerebrospinal fluid

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  1. Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, 980, Sendai, Japan

    K. Tada & K. Hayasaka

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Tada, K., Hayasaka, K. Non-ketotic hyperglycinaemia: clinical and biochemical aspects. Eur J Pediatr 146, 221–227 (1987). https://doi.org/10.1007/BF00716464

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