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Glutaric aciduria type I presenting with hypoglycaemia
Author(s) -
Dunger D. B.,
Snodgrass G. J. A. I.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801769
Subject(s) - medicine , pediatrics , dysarthria , adrenal insufficiency , glutaric acid , endocrinology , primary adrenal insufficiency , ketogenic diet , epilepsy , biology , psychiatry , biochemistry
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.