Development of Screening System for Peroxisomal Disorders Using Dried Spotted Blood and Urine

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Screening system of peroxisomal diseases including Zellweger syndrome. Neonatal adrenoleukodystrophy, infantile Refsum's disease, X-linked adrenoleukodystrophy and single enzyme deficiency of peroxisomal beta-oxidation were developed.(1) Screening by verylongchain fatty acid analysis of serum sphingomyelin was established. Lignoceric acid and cerotic acid were extremely high in these disorders. Total fatty acid analysis using extracts from dried spotted blood was applicable to mass screening of peroxisomal diseases.(2) Urinary organic acid analysis was also useful for the screening of peroxisome-deficient disorders. Massive excretion of dicarboxylic acids, high ratio of sebacic acid/adipic acid. Detection of 2-hydroxysebacic acid were the useful marker.(3) Biochemical and morphologic analyses of biopsied rectal mucosa was useful for the early postnatal diagnosis of Zellweger syndrome.(4) Radio labeled lignoceric acid oxidation and indirect immunofluorescent staining of peroxisomes were applicable to the prenatal diagnosis.(5) Zellweger-like syndrome, a new variant form of peroxisomal disease, was reported. Genetic heterogeneity of peroxisome-deficient diseases was investigated.