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,...

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Hlavní autoři: Harris, D J, Thompson, R M, Wolf, B, Yang, B I
Médium: Artigo
Jazyk:Inglês
Vydáno: 1981
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048694/
https://ncbi.nlm.nih.gov/pubmed/7241536
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