Abstract
The Rhizomelic form of chondrodysplasia puntata (RCDP) is a fatal autosomal recessive peroxisomal disorders. Clinically, it is characterized by abnormal calcification of extremities, dwarfism, cataracts, skin charges and severe mental retardation. The biochemical findings were abnormal activities dihydroxyacetonephosphata acyltransferase (DHAP-AT) oxidation of phytanic acid whereas oxidation of lignoceric acid was normal.
Peroxisomes isolated from two cell lines of RCDP and control each were compared for biochemical studies. The RCDP peroxisomes had the same density (1.178 gm/ml) as control peroxisomes. The residual activity (0.5% of control) of DHAP-AT was observed only in the peroxiscmes from RCDP and no such activity was observed in any other region of the gradient. The rates of activation and, oxidation of lignoceric acid was normal in peroxisomes from RCDP. The peroxisomes from RCDP contained 3-ketoacyl-CoA thiolase in the unprocessed form (44 KDa) whereas peroxisomes from normal peroxisomes contained both unprocessed (44KDa) and mature (41 KDa) forms. These results suggest that processing of 3-ketoacyl-CoA thiolase takes place in peroxisomes and recognition signals for its transport into peroxisomes were normal in RCDP.
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Singh, I., Lazo, O., Contreras, M. et al. 73 Rhizomelic Chondrodysplasia Punctata: Metabolic Studies in Isolated Peroxisomes. Pediatr Res 28, 289 (1990). https://doi.org/10.1203/00006450-199009000-00097
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DOI: https://doi.org/10.1203/00006450-199009000-00097