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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CITATION STYLE
Harris, D. J., Thompson, R. M., Wolf, B., & Yang, I. Y. B. (1981). Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia. Journal of Medical Genetics, 18(2), 156–157. https://doi.org/10.1136/jmg.18.2.156
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