Congenital disorders of glycosylation: Still "hot" in 2020
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem, přehledy
PubMed
32991969
DOI
10.1016/j.bbagen.2020.129751
PII: S0304-4165(20)30262-2
Knihovny.cz E-zdroje
- Klíčová slova
- CDG, Clinical guidelines, Glycosylation, Novel phenotypes, Pathobiomechanism, Therapy,
- MeSH
- glykosylace MeSH
- lidé MeSH
- lipidy genetika MeSH
- metabolické sítě a dráhy MeSH
- metabolismus lipidů MeSH
- mutace MeSH
- proteiny genetika metabolismus MeSH
- vrozené poruchy glykosylace genetika metabolismus patologie terapie MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Názvy látek
- lipidy MeSH
- proteiny MeSH
BACKGROUND: Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by defects in the genes important for the process of protein and lipid glycosylation. With the ever growing number of the known subtypes and discoveries regarding the disease mechanisms and therapy development, it remains a very active field of study. SCOPE OF REVIEW: This review brings an update on the CDG-related research since 2017, describing the novel gene defects, pathobiomechanisms, biomarkers and the patients' phenotypes. We also summarize the clinical guidelines for the most prevalent disorders and the current therapeutical options for the treatable CDG. MAJOR CONCLUSIONS: In the majority of the 23 new CDG, neurological involvement is associated with other organ disease. Increasingly, different aspects of cellular metabolism (e.g., autophagy) are found to be perturbed in multiple CDG. GENERAL SIGNIFICANCE: This work highlights the recent trends in the CDG field and comprehensively overviews the up-to-date clinical recommendations.
Citace poskytuje Crossref.org
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