Glutaric aciduria type I presenting with hypoglycaemia.
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.
D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007003:Hypoglycemia / Q000150:complications*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012867:Skin / Q000201:enzymology
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid