多个表型phosphoglucomutase 1缺乏。
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Tegtmeyer LC、防锈,van Scherpenzeel M, Ng BG, Losfeld我,Timal年代,雷蒙德·K, P,川M, Veltman J, K Huijben,胫骨Y, Sharma V, Adamowicz M, Lammens M, Reunert J,威滕,Schrapers E, Matthijs G, Jaeken J, Rymen D,斯托伊科维奇T, Laforet P,小F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T,斯坦利CA, Matalon R, Burda P, Seyyedi年代,卸下V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C,和田Y,威夫RA, Vanderschaeghe D, Callewaert N,芬格赫特R, van Schaftingen E,冻结HH,摩拉瓦河E, Lefeber DJ,马夸特T
多个表型phosphoglucomutase 1缺乏。
郑传经地中海J。2014年2月6日,370 (6):533 - 42。doi: 10.1056 / NEJMoa1206605。
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24499211 (在PubMed]
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背景:先天性疾病导致受损的糖蛋白的糖基化是遗传综合征生产。我们评估患者糖基化的小说隐性障碍的临床表现,包括肝病,裂成两半的小舌,恶性高热,hypogonadotropic性腺机能减退,生长迟缓,低血糖,肌病,扩张型心肌病,心脏骤停。方法:纯合性映射随后whole-exome测序是用来识别的基因的突变phosphoglucomutase 1 (PGM1)两个兄弟姐妹。测序确定额外的突变在15个其他家庭。Phosphoglucomutase 1酶活性在细胞提取化验。糖基化的分析效率和糖代谢产物进行定量研究。半乳糖补充纤维母细胞的文化和饮食补充剂的患者进行了研究,以确定对糖基化的影响。结果:Phosphoglucomutase 1酶活性在所有患者明显减少。转铁蛋白的质谱显示完整的丧失N-glycans和截断的聚糖缺乏半乳糖。与半乳糖显示恢复成纤维细胞补充蛋白质糖基化和糖原累积的证据。 Dietary supplementation with galactose in six patients resulted in changes suggestive of clinical improvement. A new screening test showed good discrimination between patients and controls. CONCLUSIONS: Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. Supplementation with galactose leads to biochemical improvement in indexes of glycosylation in cells and patients, and supplementation with complex carbohydrates stabilizes blood glucose. A new screening test has been developed but has not yet been validated. (Funded by the Netherlands Organization for Scientific Research and others.).