Kahrizi syndrome

Kahrizi syndrome

An autosomal recessive neurodevelopmental disorder (OMIM:612713) characterised by mental retardation, cataracts, coloboma, kyphosis and coarse facies.

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