The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I

Glutaric acidemia type I (GA-1) is a progressive neurodegenerative inborn error of metabolism that typically manifests acutely in infants during an intercurrent illness. The diagnosis is established biochemically by the detection of glutaric acid and 3-hydroxy glutaric acid in urine and glutarylcarn...

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Bibliographic Details
Published in:	Molecular genetics and metabolism Vol. 84; no. 2; pp. 137 - 143
Main Authors:	Tortorelli, S., Hahn, S.H., Cowan, T.M., Brewster, T.G., Rinaldo, P., Matern, D.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-02-2005
Subjects:	Acylcarnitine analysis Biochemical genetics Carnitine - analogs & derivatives Carnitine - urine Case-Control Studies Glutarates - blood Glutarates - urine Glutaric acidemia type I Humans Organic acid analysis Organic aciduria Acylcarnitine analysis Biochemical genetics Organic acid analysis Glutaric acidemia type I Organic aciduria
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