Glutaric aciduria type I presenting with hypoglycaemia
- 7 February 1984
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 7 (3), 122-124
- https://doi.org/10.1007/bf01801769
Abstract
We present a child with glutaryl CoA-dehydrogenase deficiency (type I glutaric aciduria) who presented with bilateral subdural hydromas, and progressive choreoathetosis and dysarthria. The diagnosis was made when she was investigated for hypoglycaemia at the age of 3.5 years. Temporary adrenocortical insufficiency was also noted. Three years after diagnosis the adrenal insufficiency and hypoglycaemia have resolved and treatment with riboflavin and ‘lioresal’, a GABA analogue, has prevented any further neurological deterioration.This publication has 11 references indexed in Scilit:
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