文本框: PEROXISOMAL DISORDERS Moser H, Moser A, Bezman L, Raymond GV Kennedy Krieger Institute, Baltimore, USA Objective: To provide an overview of the incidence, biological basis, diagnosis, prevention and therapy of peroxisomal disorders. Methods: Analysis of data on patients with peroxisomal disorders diagnosed at the Peroxisome Disease Diagnosis Laboratory at the Kennedy Krieger Institute between 1978 and January 2001, combined with review of data in the literature. Results: 6,000 patients with peroxisomal disorders were identified. 5,000 had X-linked adrenoleukodystrophy (X-ALD). The minimum frequency of X-ALD in USA is 1:16,800 and the incidence appears comparable in all ethnic groups. 1,000 patients with other peroxisomal disorders were identified; 800 had disorders of peroxisome biogenesis. The gene defects have been defined in <95%. Plasma assay of very long chain fatty acids is the most common diagnostic procedure but may need to be supplemented by other tests. Nearly all peroxisomal disorders can be identified prenatally. The most effective therapies are phytanic acid restriction for Refsum disease, liver-kidney transplant for hyperoxaluria type 1, adrenal hormone replacement and sometimes bone marrow transplant for X-ALD. Conclusions: Peroxisomal disorders, particularly X-ALD, are more common than recognized in the past. Nearly all can be diagnosed by non-invasive procedures early in life and prenatally. Genetic counseling aids disease prevention. Therapies are emerging and are most effective when applied in the early stages of the illness. 0A-S4-3