半乳糖血症：一种因尿苷二磷酸半乳糖-4-表异构酶缺乏所致的新型严重变体。
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
作者信息
Holton J B, Gillett M G, MacFaul R, Young R
出版信息
Arch Dis Child. 1981 Nov;56(11):885-7. doi: 10.1136/adc.56.11.885.
Abstract
A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction modified the acute clinical and biochemical abnormality, but it appears essential to include some galactose in the diet in this condition to allow synthesis of galactosides, including the brain gangliosides.
摘要
一名婴儿在出生第5天出现经典半乳糖血症症状，据信这是由于缺乏尿苷二磷酸-4-表异构酶，而非通常的1-磷酸半乳糖尿苷转移酶缺陷所致。除半乳糖血症外，该病症的生化特征是红细胞中1-磷酸半乳糖和尿苷二磷酸半乳糖蓄积。限制半乳糖摄入可改善急性临床和生化异常，但在这种情况下，饮食中似乎必须包含一些半乳糖，以利于包括脑苷脂在内的半乳糖苷的合成。
相似文献
1
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.半乳糖血症：一种因尿苷二磷酸半乳糖-4-表异构酶缺乏所致的新型严重变体。
Arch Dis Child. 1981 Nov;56(11):885-7. doi: 10.1136/adc.56.11.885.
2
A patient with severe type of epimerase deficiency galactosaemia.
J Inherit Metab Dis. 1988;11 Suppl 2:249-51. doi: 10.1007/BF01804249.
3
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.一例临床表现严重的尿苷二磷酸半乳糖-4-表异构酶缺乏症的进一步观察。
J Inherit Metab Dis. 1983;6(1):17-20. doi: 10.1007/BF02391187.
4
[Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].[双杂合性（转移酶/表异构酶缺陷）与半乳糖血症性白内障]
Monatsschr Kinderheilkd. 1988 Dec;136(12):828-30.
5
A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia.通过新生儿半乳糖血症筛查发现的一例尿苷二磷酸半乳糖-4-表异构酶缺乏症病例。
Med J Aust. 1986 Feb 3;144(3):150-1. doi: 10.5694/j.1326-5377.1986.tb112246.x.
6
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.由全身性尿苷二磷酸半乳糖-4-表异构酶缺乏引起的半乳糖血症。
J Pediatr. 1983 Dec;103(6):927-30. doi: 10.1016/s0022-3476(83)80719-7.
7
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.由全身性尿苷二磷酸半乳糖-4-表异构酶缺乏引起的半乳糖血症。
J Pediatr. 1986 Dec;109(6):1074-5. doi: 10.1016/s0022-3476(86)80305-5.
8
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.尿苷二磷酸半乳糖4'-表异构酶缺乏症。IV. 三个家族中八例病例报告。
Helv Paediatr Acta. 1977 Apr;31(6):441-52.
9
Uridine diphosphate galactose 4-epimerase deficiency.尿苷二磷酸半乳糖4-表异构酶缺乏症
Eur J Pediatr. 1981 Feb;135(3):303-4. doi: 10.1007/BF00442108.
10
Structure and function of enzymes of the Leloir pathway for galactose metabolism.半乳糖代谢的Leloir途径中酶的结构与功能
J Biol Chem. 2003 Nov 7;278(45):43885-8. doi: 10.1074/jbc.R300025200. Epub 2003 Aug 15.
引用本文的文献
1
Galactose epimerase deficiency: lessons from the GalNet registry.半乳糖表异构酶缺乏症：GalNet 注册研究的启示。
Orphanet J Rare Dis. 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4.
2
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.半乳糖激酶缺乏症（IV型半乳糖血症）的发现及日本半乳糖血症新生儿筛查系统
Int J Neonatal Screen. 2021 Oct 25;7(4):68. doi: 10.3390/ijns7040068.
3
Nutrition in Chronic Liver Disease: Consensus Statement of the Indian National Association for Study of the Liver.慢性肝病的营养：印度国家肝脏研究协会共识声明
J Clin Exp Hepatol. 2021 Jan-Feb;11(1):97-143. doi: 10.1016/j.jceh.2020.09.003. Epub 2020 Oct 1.
4
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.采用分子动力学、残基网络分析和互相关矩阵方法，研究 GALE 基因致 III 型半乳糖血症的错义突变的致病性。
Cell Biochem Biophys. 2021 Jun;79(2):201-219. doi: 10.1007/s12013-020-00960-z. Epub 2021 Feb 8.
5
Galactose Epimerase Deficiency: Expanding the Phenotype.半乳糖表异构酶缺乏症：扩展表型
JIMD Rep. 2017;37:19-25. doi: 10.1007/8904_2017_10. Epub 2017 Mar 1.
6
Drosophila melanogaster Models of Galactosemia.半乳糖血症的果蝇模型
Curr Top Dev Biol. 2017;121:377-395. doi: 10.1016/bs.ctdb.2016.07.009. Epub 2016 Aug 3.
7
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.果蝇半乳糖血症模型中的协调运动、神经肌肉突触发生和跨突触信号缺陷。
Hum Mol Genet. 2016 Sep 1;25(17):3699-3714. doi: 10.1093/hmg/ddw217. Epub 2016 Jul 27.
8
UDP-galactose 4'-epimerase from the liver fluke, Fasciola hepatica: biochemical characterization of the enzyme and identification of inhibitors.来自肝吸虫（肝片吸虫）的UDP-半乳糖4'-表异构酶：酶的生化特性及抑制剂鉴定
Parasitology. 2015 Mar;142(3):463-72. doi: 10.1017/S003118201400136X. Epub 2014 Aug 15.
9
Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.野生型和 V94M 人 UDP-半乳糖 4-差向异构酶的动力学比较——严重差向异构酶缺乏性半乳糖血症的计算视角。
Gene. 2013 Sep 10;526(2):318-24. doi: 10.1016/j.gene.2013.05.027. Epub 2013 May 31.
10
A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.UDP-半乳糖4'-表异构酶（GALE）新型变异体纯合子的单卵双胞胎病例研究：复杂的GALE变异体病例
JIMD Rep. 2013;7:89-98. doi: 10.1007/8904_2012_153. Epub 2012 Jul 1.
本文引用的文献
1
Enzymatic estimation of erythrocytic galactose-1-phosphate.红细胞中1-磷酸半乳糖的酶法测定
J Lab Clin Med. 1960 Jul;56:161-6.
2
Uridine diphosphate galactose 4-epimerase deficiency.尿苷二磷酸半乳糖4-表异构酶缺乏症
Am J Dis Child. 1980 Oct;134(10):995. doi: 10.1001/archpedi.1980.02130220071025.
3
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation.尿苷二磷酸半乳糖4-差向异构酶缺乏症。II. 临床随访、生化研究及家系调查。
Helv Paediatr Acta. 1973 Dec;28(6):497-510.
4
A simple spot screening test for galactosemia.一种用于半乳糖血症的简单点筛试验。
J Lab Clin Med. 1966 Jul;68(1):137-41.
5
Diagnosis of classical galactosaemia.经典型半乳糖血症的诊断
Arch Dis Child. 1977 Dec;52(12):943-6. doi: 10.1136/adc.52.12.943.
Zotero 插件