酪氨酸血症(tyrosinemia)是由于酪氨酸分解代谢途径中酶的缺陷,所导致的血浆酪氨酸明显增高。根据酶缺陷的种类不同,分为三型:酪氨酸血症Ⅰ型(tyrosinemia type 1, HT-Ⅰ, 0MIM 276700)又称为肝-肾型酪氨酸血症,是由于延胡索酰乙酰乙酸水解酶(fumarylacetoacetate hydrolase,FAH)缺陷,导致延胡索酰乙酰乙酸不能分解为...
酪氨酸血症基因检测是对英文疾病名称为tyrosinemia的疾病进行的质量不一的基因检测的总称。基因解码表明:该病是由于酪氨酸分解代谢途径中酶的缺陷,所导致的血浆酪氨酸明显增高。根据酶缺陷的种类不同,分为三型:酪氨酸血症Ⅰ型,眼-皮肤型酪氨酸血症,
英英释义 autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation 访问沪江小D查看tyrosinemia的更多详细解释>相关短语 dl methionine (旦氨酸) 甲硫氨基酸 2,5 diaminovaleric acid (乌氨酸) 2,5-二氨基戊酸 hematein test (检血) 苏木精试验 Neubauer ...
Facebook Twitter Google Share on Facebook TYR (redirected fromtyrosinemia) Dictionary Thesaurus Medical Encyclopedia Wikipedia Related to tyrosinemia:tyrosinemia type 2 AcronymDefinition TYRTyrosine(Amino Acid) TYRTyrone(Amtrak station code; Tyrone, PA) ...
本病是由于患者缺少对羟苯丙酮酸氧化酶(hydroxylphenyl puruvic acid oxidase)而导致酪氨酸代谢异常可引起Fanconi综合征。其特征是血中酪氨酸、苯丙氨酸、蛋氨酸、丙氨酸显著增加,其他氨基酸很少增加。在尿中排出酪氨酸、苯丙氨酸、蛋氨酸和对羟苯丙酮酸,对羟苯乙酸的酚酸代谢产物也增加。临床上本病分成两型:Ⅰ型酪氨酸...
“Tyrosinemia.”Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/tyrosinemia. Accessed 22 Jun. 2024. Copy Citation Share Facebook Twitter Love words? Need even more definitions? Subscribe to America's largest dictionary and get thousands more definitions...
2型酪氨酸血症的英文名字是Tyrosinemia, Type 2。基因解码表明:佳学基因通过基因解码发现:2型酪氨酸血症是由基因突变引起的。这种疾病是由TYR基因的突变引起的,该基因编码酪氨酸氨基转移酶(TAT),该酶在酪氨酸代谢中起着重要作用。TYR基因突变会导致TAT酶功能异常或缺失,从而导致酪氨酸在体内无法正常代谢,引起2型酪...
Related to Tyrosinemias:tyrosinemia type 2 ThesaurusAntonymsRelated WordsSynonymsLegend: Switch tonew thesaurus Noun1.tyrosinemia- autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation autosomal recessive defect,autosomal recessive disease- a disease ...
Tyrosinemia - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.