Article
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
Wiadomosci lekarskie (Warsaw, Poland : 1960) - 1 Jan 2000
Maksimova Nadezda R, Gurinova Elizaveta E, Sukhomyasova Aitalina L, Danilova Anastasia L, Kaimonov Vladimir S, Savvina Mira T, Yakovleva Aleksandra E, Alekseeva Elena I
Abstract excerpt
INTRODUCTION: Tyrosinemia type 1 (HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective . AIM: We present here the first report on identification of FAH mutation in HT1 Yakut patient from Russia with a novel one. MATERIAL AND METHODS: The material...
Topics
- DNA Mutational Analysis
- Humans
- Hydrolases
- Infant
- Mutation
- Russia
- Tyrosinemias