Abstract
Rhizomelic Chondrodysplasia Punctata (RCDP) is a severe, autosomal recessive disorder with specific clinical abnormalities. As ocular features in RCDP resemble those in Zellweger syndrome (ZS),we compared peroxisomal functions in 14 RCDP patients, ZS patients and controls. Some of the results are presented in the Table: *DHAP-AT=acyl-CoA:dihydroxy-acetone phosphate acyltransferase. So, RCDP results from multiple peroxisomal deficiencies. However, in contrast to ZS, peroxisomal β-oxidation and intracellular catalase localisation are normal. Pre- and postnatal diagnosis of RCDP can be based on these findings, No peroxisomal dysfunction was found in Conradi-Hündermann syndrome and in X-linked dominant CDP.
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