Carbohydrate deficient glycoprotein syndrome type IA

被引：0

作者：

Chu, KL

Chien, YH

Tsai, CE

Freeze, HH

Eklund, E

Hwu, WL

机构：

[1] Natl Taiwan Univ Hosp, Dept Pediat & Med Genet, Taipei 100, Taiwan

[2] Burnham Inst, Glycobiol & Carbohydrate Chem Program, La Jolla, CA 92037 USA

来源：

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION | 2004年 / 103卷 / 09期

关键词：

carbohydrate-deficient glycoprotein syndrome; case reports; phosphotransferases (phosphomutases); transferrin;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterized by the abnormal glycosylation of a number of serum glycoproteins. CDG-Ia results from deficiency of phosphomannomutase that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate in the cytosol. We report a case of CDG-Ia in an 11-month-old girl with developmental delay, failure to thrive, inverted nipples and abnormal fat pads. The abnormal pattern of transferrin glycosylation and phosphomannomutase activity assay confirmed the diagnosis of CDG type Ia. Unfortunately, an efficient treatment is still not available for CDG type Ia patients. This is the first report of a Taiwanese patient with this syndrome.

引用

页码：721 / 723

页数：3

共 11 条

[1]

Charlwood J, 1998, PRENATAL DIAG, V18, P693

[2] Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins [J].