Synonyms 4-Hydroxyphenylpyruvic acid oxidase deficiency; 4-Hydroxyphenylpyruvate dioxygenase deficiency; HPD deficiency Definition and Characteristics Tyrosinemia type III is an autosomal recessive disorder caused by a defect in 4-hydroxyphenylpyruvate dioxygenase [ 1 ]. It is characterized by elevated levels...
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, 0
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...
Type-2 tyrosinemia (T-2) is an inborn error of metabolism due to STAT deficiency resulting in high serum tyrosine (TYR) levels. Clinical features include palmoplantar hyperkeratosis, dendritic keratitis and mental retardation. We observed 4 patients (2 children, 2 adult women, serum TYR levels ...
The succes- sful inclusion of succinylacetone as a marker of Tyrosinemia Type I in Tuscany newborn screening pro- gram.Rapid Commun Mass Spectrom 2009;23:3891-3la Marca G, Malvagia S, Funghini S, et al. The successful inclusion of succinylacetone as a marker of tyrosinemia type I in ...
2-(2-nitro-4-trifluoromethylbenzoyl)-1-3-cyclohexanedionehereditary tyrosinemia type 1liver transplantationThe article presents a case study of a patient who was asymptomatic until presentation with abdominal distension and growth retardation aged 1 year and 4 months. It mentions about the factor to ...
Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience Pediatr. Int., 57 (2015), pp. 281-289 CrossrefView in ScopusGoogle Scholar [3] N. Bayley Bayley Scales of Infant Development The psychological corporation, San Antonio, Texas (1993) Google Scholar [4] F. Bendadi...
Four patients with tyrosinemia type 1 (ages 6–32months) were treated with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion (NTBC) at Cairo Univers... H El-Karaksy,M Rashed,R El-Sayed,... - 《European Journal of Pediatrics》 被引量: 49发表: 2010年 Neurocognitive outcome in...
I. Aelite type o( /ITT-I. Four of the six patients with acute disease (patients 3-6) had remarkably elevated serum CA 125 levels at diagnosis (153, 1560,500. and 464 IU/L. respectively). which declined to normal within 4 mo (Fig. lA ). Two of the six patients (patients I and...
Type 1 hereditary tyrosinemia (HT) is an autosomal recessive disease characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH; E.C.3... P Hechtman - 《New England Journal of Medicine》 被引量: 210发表: 0年 Fumarylacetoacetate, the metabolite accumulating in hereditary tyr...