Diagnosis and treatment of congenital disorders of glycosylation
10.3760/cma.j.issn.1673-4408.2021.05.008
- VernacularTitle:先天性糖基化异常诊治研究进展
- Author:
Biyun FENG
;
Xiumin WANG
- From:
International Journal of Pediatrics
2021;48(5):318-322
- CountryChina
- Language:Chinese
-
Abstract:
Congenital disorders of glycosylation(CDG)are a group of rare inherited metabolic diseases due to defects in the glycosylation of glycoproteins and/or glycolipids.Most of them are autosomal recessive and have multisystemic manifestations, which is characterized by dysmorphic facial features, developmental delay, growth failure, hypotonia, neurological abnormalities, hypoglycemia and multisystem disfunctions.Isoelectrofocusing(IEF)analysis of transferrin(Tf)and mass spectrometry(MS)technology can diagnose some subtypes of CDG, while many currently rely on genomic sequencing technology for diagnosis.A few subtypes can be clinically relieved or even cured by treatment, but most have no effective treatment.Development of molecular, biochemical and facial recognition techniques may deepen our understanding of this disease.
