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  • Title: Glutaric aciduria type I presenting with hypoglycaemia.
    Author: Dunger DB, Snodgrass GJ.
    Journal: J Inherit Metab Dis; 1984; 7(3):122-4. PubMed ID: 6438395.
    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.
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