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congenital disorder of glycosylation 2b (CDG2b); glucosidase 1 deficiency
Pathology:
- severe hypogammaglobulinemia due to diminished immunoglobulin half life
- impaired viral entry into cells
- impaired viral replication
Genetics:
- defects in MOGS (GCS1)
Clinical manifestations:
1) generalized hypotonia
2) hypomotility of the neonate
3) dysmorphic features
- prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, hypoplastic genitalia
4) hepatomegaly
5) hypoventilation
6) feeding problems
7) seizures
8) clinical course progressive
9) death within 1st few months
Laboratory:
- serum gammaglobulins (severe hypogammaglobulinemia)
Related
mannosyl-oligosaccharide glucosidase; processing A-glucosidase I (MOGS, GCS1)
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 606056
References
- OMIM :accession 606056
- Sadat MA, Moir S, Chun TW et al
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral
Infections.
N Engl J Med. 2014 Apr 9. [Epub ahead of print]
PMID: 24716661