Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia

D. J. Harris, R. M. Thompson, B. Wolf, I. Y.B. Yang

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)156-157
Number of pages2
JournalJournal of medical genetics
Volume18
Issue number2
DOIs
StatePublished - 1981

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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