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  • Title: Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
    Author: Harris DJ, Thompson RM, Wolf B, Yang BI.
    Journal: J Med Genet; 1981 Apr; 18(2):156-7. PubMed ID: 7241536.
    Abstract:
    A 4-month-old girl presented with myoclonic seizures and an electroencephalogram showing hypsarrhythmia. Hyperglycinuria and a cerebrospinal fluid to plasma glycine ratio of 0.2 suggested the diagnosis of non-ketotic hyperglycinaemia. Propionic acid and methyl citric acid were present in the urine, and propionyl coenzyme A carboxylase was deficient in leucocytes and fibroblasts. The ketotic and non-ketotic hyperglycinaemias cannot be differentiated by CSF: plasma glycine ratios.
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