Hyperglycinemia: A Defect in Glycine Cleavage Reaction

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A girl with hyperglycinemia of nonketotic type was presented. The liver biopsied from the patient was studied for glycine metabolism. It was found that the yield of ¹⁴CO₂ from glyeine-l-¹⁴C and the rate of 11C incorporation into serine from glyeine-l-¹⁴C as well as glycine-2-¹⁴C were extremely low in the patient's liver than in control livers, while the patient's liver showed normal activities of serine-hydroxyrnethylase and serine-dehydratase.
These findings indicate that the primary lesion of hyperglycinemia of nonketotic type is a defect in the glyeine cleavage reaction which gives rise to the formation of CO₂, methylene-tetrahydrofolate and ammonia from glyeine.