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Research Article
Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
  1. D J Harris,
  2. R M Thompson,
  3. B Wolf,
  4. B I Yang

    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.

    https://doi.org/10.1136/jmg.18.2.156

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