Glutaric aciduria type I presenting with hypoglycaemia.

D B Dunger; G J Snodgrass

doi:10.1007/bf01801769

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PubMed · 6438395

Glutaric aciduria type I presenting with hypoglycaemia.

D B Dunger·G J Snodgrass

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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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Cells, Cultured Child, Preschool Female Fibroblasts Glutarates Glutaryl-CoA Dehydrogenase Humans Hypoglycemia Metabolism, Inborn Errors Oxidoreductases Oxidoreductases Acting on CH-CH Group Donors Skin Case Reports Journal Article

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D B Dunger, G J Snodgrass. 1984. Glutaric aciduria type I presenting with hypoglycaemia.. https://doi.org/10.1007/bf01801769

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