全身性尿苷二磷酸半乳糖-4-表异构酶缺乏症
Generalised uridine diphosphate galactose-4-epimerase deficiency.
作者信息
Walter J H, Roberts R E, Besley G T, Wraith J E, Cleary M A, Holton J B, MacFaul R
机构信息
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK.
出版信息
Arch Dis Child. 1999 Apr;80(4):374-6. doi: 10.1136/adc.80.4.374.
Abstract
The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features. The two older female patients have normal pubertal development.
摘要
表异构酶缺乏型半乳糖血症的全身性形式仅在来自非相关家庭的两名儿童中被描述过。本文报告了他们的病情进展，并描述了来自这些家庭的另外三名患病儿童。最初的表现与典型半乳糖血症相似。尽管接受了治疗，但所有患儿均生长发育不良且有中度学习困难。三名患儿有感觉神经性耳聋，四名患儿有明显的畸形特征。两名年龄较大的女性患者青春期发育正常。
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本文引用的文献
1
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.人类UDP-半乳糖4'差向异构酶（GALE）基因及差向异构酶缺乏型半乳糖血症患者中五个错义突变的鉴定。
Mol Genet Metab. 1998 Jan;63(1):26-30. doi: 10.1006/mgme.1997.2645.
2
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.1-磷酸果糖对磷酸甘露糖异构酶的抑制作用：对遗传性果糖不耐受中N-糖基化缺陷的一种解释。
Pediatr Res. 1996 Nov;40(5):764-6. doi: 10.1203/00006450-199611000-00017.
3
Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase.编码人UDP-半乳糖4'-表异构酶的全长cDNA的分子克隆、特性分析及定位
Biochem Mol Med. 1995 Oct;56(1):1-7. doi: 10.1006/bmme.1995.1048.
4
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.正常人和遗传性半乳糖血症患者体内半乳糖的内源性合成
Lancet. 1995 Oct 21;346(8982):1073-4. doi: 10.1016/s0140-6736(95)91745-4.
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6
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7
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8
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10
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