Kvittingen E A, Brodtkorb E
Scand J Clin Lab Invest Suppl. 1986;184:35-40.
Fumarylacetoacetase has been determined in fibroblasts, lymphocytes and/or liver tissue from 46 patients affected or presumed to be affected with tyrosinemia type I and in fibroblasts or lymphocytes from 80 obligate or presumed obligate heterozygotes. Eleven patients did not have deficient enzyme activity and 11 parents did not have intermediate enzyme activities compatible with heterozygosity for tyrosinemia. In altogether 15 of the 51 families investigated the fumarylacetoacetase activity of the patient and/or the parents was not compatible with tyrosinemia in the family. Prenatal determination of fumarylacetoacetase, in cultured amniotic fluid cells or chorionic villus material, has been performed in 24 pregnancies at risk or presumed to be at risk for a child with tyrosinemia. In six cases the enzyme activity was deficient, consistent with an affected foetus. Elevation of succinylacetone was found in 32 of the 35 patients with fumarylacetoacetase deficiency when the enzyme assay was carried out. In two cases with deficient fumarylacetoacetase activity, succinylacetone was searched for but had not been found to be elevated when the enzyme defect was demonstrated. Succinylacetone, if searched for, was not elevated in any of the cases with normal fumarylacetoacetase activity.
已对46例患有或疑似患有I型酪氨酸血症患者的成纤维细胞、淋巴细胞和/或肝组织，以及80例肯定或疑似杂合子的成纤维细胞或淋巴细胞进行了富马酰乙酰乙酸酶检测。11例患者酶活性不缺乏，11例患者的父母酶活性不属于与酪氨酸血症杂合子相符的中间水平。在总共51个被调查的家庭中，有15个家庭的患者和/或父母的富马酰乙酰乙酸酶活性与该家庭中的酪氨酸血症不相符。已对24例有风险或疑似有风险生育酪氨酸血症患儿的孕妇，在培养的羊水细胞或绒毛膜绒毛材料中进行了产前富马酰乙酰乙酸酶检测。6例酶活性缺乏，与胎儿患病一致。在进行酶检测的35例富马酰乙酰乙酸酶缺乏患者中，有32例发现琥珀酰丙酮升高。在2例富马酰乙酰乙酸酶活性缺乏的病例中，虽检测了琥珀酰丙酮，但在证实酶缺陷时未发现其升高。在富马酰乙酰乙酸酶活性正常的任何病例中，若检测琥珀酰丙酮，其均未升高。
