Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
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.
D002262:Carboxy-Lyases / Q000172:deficiency*; D005260:Female; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000201:enzymology; D043586:Methylmalonyl-CoA Decarboxylase; D009207:Myoclonus / Q000201:enzymology*; D011422:Propionates / Q000172:deficiency
D011422:Propionates; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; D005998:Glycine