Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia

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

doi:10.1136/jmg.18.2.156

Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia

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

Pediatrics

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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 language	English (US)
Pages (from-to)	156-157
Number of pages	2
Journal	Journal of medical genetics
Volume	18
Issue number	2
DOIs	https://doi.org/10.1136/jmg.18.2.156
State	Published - 1981

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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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AB - 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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Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia

Abstract

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