Glutaric acidemia type I is caused by mutations of the glutaryl-CoA dehydrogenase (GCDH) gene resulting in loss of GCDH enzyme activity. Patients present with progressive dystonia and lesions in basal ganglia. Dietary treatment, when instituted from the early neonatal period, markedly reduces dyston
Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I
β Scribed by Christiane Busquets; Mercedes Soriano; Isabel Tavares de Almeida; Barbara Garavaglia; Marco Rimoldi; Isabel Rivera; Graziella Uziel; Aguinaldo Cabral; M.Josep Coll; Antonia Ribes
- Book ID
- 115639760
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 33 KB
- Volume
- 71
- Category
- Article
- ISSN
- 1096-7192
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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
Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987-1997. Their age of onset was variable but all the patients suffered from liver disease at presentation. Six died