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

• generalized hypotonia
• hypomotility of the neonate
• dysmorphic features
  • prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, hypoplastic genitalia
• hepatomegaly
• hypoventilation
• feeding problems
• seizures
• clinical course progressive
• death within 1st few months

Laboratory

• serum gammaglobulins (severe hypogammaglobulinemia)

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Additional terms

• mannosyl-oligosaccharide glucosidase; processing A-glucosidase I (MOGS, GCS1)

Database

• OMIM: https://mirror.omim.org/entry/606056