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Type I tyrosinemia : ウィキペディア英語版 | Type I tyrosinemia
Type 1 Tyrosinemia, also known as hepatorenal tyrosinemia, is the most severe form of Tyrosinemia, an inability to metabolize Tyrosine. It is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. ==Genetics== Type 1 tyrosinemia is inherited in an autosomal recessive pattern.〔National Organization for Rare Disorders. (Physician’s Guide to Tyrosinemia Type 1 )〕 Worldwide, type I tyrosinemia affects about 1 person in 100,000. This type of tyrosinemia is much more common in Quebec, Canada. The overall incidence in Quebec is about 1 in 16,000 individuals. In the Saguenay-Lac-Saint-Jean region of Quebec, type 1 tyrosinemia affects 1 person in 1,846. The carrier rate has been estimated to be between 1 in 20 and 1 in 31.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Type I tyrosinemia」の詳細全文を読む
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