Enfermedades peroxisomales. Estado actual

Abstract

Abstract Peroxisomes are subcellular structures which contains numerous enzymes ?more than 40? that take part in several metabolic processes, among which the synthesis of peroxide of hydrogen, the oxidation of the fatty acids, the formation of biliary acids, lipids and choleterol are remarkable. The failure of the functions of peroxisomes gives rise to disorders that are classified in two groups: group 1 when the loss of several functions of peroxisomes are noticed and group 2 when an only function is affected. In the first group we can include the classic Zellwerger´s syndrome, the neonatal adrenoleukodistrophy, the children´s Refsum´s syndrome and the rhizomelic chondrodysplasia punctata. The main variables in group 2 are the adrenoleukodistrophy bound to X and the classic Refsum´s disease. This pathology must be suspected in the patients suffering from craniofacial dismorphy, auditory and visual anomalies, psychomotor retarded patients and these who are hepatomegaly, behavioural disorders and stunted growth. After the clinical suspicion, the determination of the very long chain fatty acids is very useful and it is possible to detect prenatally most of these situations. The treatment of processes in group 1 is symptomatic and in group 2 dietetic therapeutics and bone marrow´s transplantation is used, whereas other measures such as the immunosuppressants haven´t supplied satisfactory results.