New insights for glutaric aciduria type I.

Glutaric aciduria type I (GA-1) is due to recessively inherited glutaryl-CoA dehydrogenase (GCDH) deficiency and causes age-dependent susceptibility to acute striatal necrosis. A better understanding of the cellular and biochemical events underlying striatal damage will be required to prevent this devastating injury. The majority of past research effort has focused on the potential role of glutaric or 3-hydroxyglutaric acid (3-HGA) by exposure of cultured cells or brain slices to these metabolites in vitro , or their injection into rodent striatum (Kolker et al ., 2004). The GCDH-deficient mouse created by Koeller et al . (2002) does not develop striatal injury spontaneously. However, we have …

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