RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 RCDP2

Description: DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY DHAPAT DEFICIENCY GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY GNPAT DEFICIENCY PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY patients with type 2 rhizomelic chondrodysplasia punctata (RCDP2) show deficiency of the enzyme acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT; 602744). Wanders et al. (1992) described a patient showing all the clinical features of rhizomelic chondrodysplasia punctata (see RCDP1; 215100) but lacking the classic tetrad of biochemical abnormalities: impairment of plasmalogen biosynthesis, elevated phytanic acid, deficiency of alkyl-dihydroxyacetonephosphate synthase, and an abnormal molecular form of peroxisomal thiolase. Instead the patient was found to have an isolated deficiency of dihydroxyacetonephosphate acyltransferase. The patient (sex not stated) had a low/broad nasal bridge and anteverted nostrils, cataracts, and pronounced rhizomelic shortening, especially of the arms.