نتایج جستجو برای: tyrosinemia type ii

تعداد نتایج: 1796109  

Journal: :Proceedings of the National Academy of Sciences 1998

2014
Gautam Kumar Akanksha Sharma

Hereditary Tyrosinemia Type 1 (HT1) is a metabolic disorder below to the class of autosomal recessive inheritance caused by the dearth of enzyme fumaryl acetoacetase the last enzyme in the tyrosine catabolic pathway . Affected individuals show increased tyrosine and succinyl acetone concentration (SA) in blood. Patients also excrete increased concentration of SA in urine. The disorder is charac...

Journal: :Clinical chemistry 2009
Barbara W Adam Timothy H Lim Elizabeth M Hall W Harry Hannon

BACKGROUND Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I--an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUAC-enriched DBSs to compare and evaluate th...

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