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
Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I
โ Scribed by Awata, Hisataka; Endo, Fumio; Tanoue, Akito; Kitano, Akito; Nakano, Yoshikuni; Matsuda, Ichiro
- Book ID
- 123195884
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 406 KB
- Volume
- 1226
- Category
- Article
- ISSN
- 0925-4439
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๐ SIMILAR VOLUMES
Tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by deficiency of the enzyme fumaryl acetoacetate hydrolase (FAH, EC 3.7.1.2.). We have used reverse transcription and the polymerize chain reaction to amplify the peptide coding region of the FAH cDNA from four patients w
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
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