Tyrosinemia type I is an inborn error of metabolism caused by a deficiency in the last enzyme of the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH). The disease has been reported worldwide with varying incidence. Recently, there has been considerable progress in identifying mutation
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I
β Scribed by Cynthia Timmers; Markus Grompe
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 247 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1059-7794
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Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of the enzyme fumarylacetoacetase (FAH). To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of
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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