Glutaric aciduria type I presenting with hypoglycaemia
作者： D. B. Dunger , G. J. A. I. Snodgrass
DOI: 10.1007/BF01801769
关键词:
摘要: We present a child with glutaryl CoA-dehydrogenase deficiency (type I glutaric aciduria) who presented bilateral subdural hydromas, and progressive choreoathetosis dysarthria. The diagnosis was made when she investigated for hypoglycaemia at the age of 3.5 years. Temporary adrenocortical insufficiency also noted. Three years after adrenal have resolved treatment riboflavin 'lioresal', GABA analogue, has prevented any further neurological deterioration.
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