glycosylation disorder, congenital, type 1Q

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glycosylation disorder, congenital, type 1Q

A multisystem disorder (OMIM:612379) caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins.

Clinical findings
Defective nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders and immunodeficiency. 

Molecular pathology
Caused by defects of SRD5A3, which encodes a steroid 5-alpha reductase that produces androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, is required for the synthesis of monosaccharides and is the precursor used for N-linked glycosylation of proteins.