Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy

The biochemical hallmark of glutaric aciduria type I (GA I) due to glutaryl‐CoA dehydrogenase deficiency is the accumulation of glutaric acid, and to a lesser degree of 3‐hydroxyglutaric and glutaconic acids. Abnormal metabolites vary from gross organic aciduria to only slightly or intermittently el...

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Veröffentlicht in:	Journal of inherited metabolic disease 1999-06, Vol.22 (4), p.381-391
Hauptverfasser:	Hoffmann, G. F., Zschocke, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminoacid disorders Animals Biological and medical sciences Errors of metabolism Glutarates - urine Glutaric aciduria type I Humans Medical sciences Metabolic diseases Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - pathology Metabolism, Inborn Errors - physiopathology Metabolism, Inborn Errors - therapy
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