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Deficiency of fumarylacetoacetase without hereditary tyrosinemia.

作者信息

Kvittingen E A, Børresen A L, Stokke O, van der Hagen C B, Lie S O

出版信息

Clin Genet. 1985 Jun;27(6):550-4. doi: 10.1111/j.1399-0004.1985.tb02039.x.

DOI:10.1111/j.1399-0004.1985.tb02039.x
PMID:4017276
Abstract

A variant of the enzyme fumarylacetoacetase (FAH) (E.C.3.7.1.2) in healthy individuals, determined by the enzyme activity, is reported. Analysis of family members of probands with low FAH activity suggests that the enzyme variant causing low activity could be the product of a pseudodeficiency gene. Assumed homozygotes for this gene have only slightly higher enzyme activity than patients with the metabolic disorder hereditary tyrosinemia I (hepatorenal type). No clinical abnormalities have been found in association with the postulated gene.

摘要

相似文献

1
Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
Clin Genet. 1985 Jun;27(6):550-4. doi: 10.1111/j.1399-0004.1985.tb02039.x.
2
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
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3
Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
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The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.I型酪氨酸血症的产前和产后诊断以及通过测定富马酰乙酰乙酸酶检测携带者状态。
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Hereditary tyrosinemia type I--an overview.遗传性I型酪氨酸血症——概述
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Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.两个错义突变导致1型酪氨酸血症，伴有或不伴有免疫反应性延胡索酰乙酰乙酸酶。
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Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).遗传性酪氨酸血症（I型）两种临床形式中富马酰乙酰乙酸水解酶缺乏的不同分子基础。
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引用本文的文献

1
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.导致遗传性酪氨酸血症的富马酰乙酰乙酸水解酶基因中的一个错义突变（Q279R）起到剪接突变的作用。
BMC Genet. 2001;2:9. doi: 10.1186/1471-2156-2-9. Epub 2001 Jun 29.
2
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.在富马酰乙酰乙酸酯酶基因中鉴定出一种常见的假缺陷突变，对I型酪氨酸血症的诊断具有重要意义。
Am J Hum Genet. 1994 Dec;55(6):1122-7.
3
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
1型酪氨酸血症和谷胱甘肽合成酶缺乏症：两种肝硫醇基团浓度降低且伴有肝脏4-富马酰乙酰乙酸水解酶缺乏的疾病。
J Inherit Metab Dis. 1995;18(1):48-55. doi: 10.1007/BF00711372.
4
Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I.对对照组和遗传性I型酪氨酸血症的纯合子进行尿黑酸口服负荷试验。
Am J Hum Genet. 1990 Aug;47(2):329-37.
5
Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.测定富马酰乙酰乙酸酶作为I型遗传性酪氨酸血症的大规模筛查方法。
Am J Hum Genet. 1990 Aug;47(2):325-8.
6
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
Hum Genet. 1992 May;89(2):229-33. doi: 10.1007/BF00217128.