Type I glutaric aciduria, part 1: Natural history of 77 patients
β Scribed by Strauss, Kevin A. ;Puffenberger, Erik G. ;Robinson, Donna L. ;Morton, D. Holmes
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 465 KB
- Volume
- 121C
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1βassociated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16
We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val a