Single peroxisomal enzyme deficiency

Kerckaert I, Poll-The , Espeel M, Duran M, Roeleveld AB, Wanders RJA, Roels F (2000) Hepatic peroxisomes in isolated hyperpipecolic acidaemia evidence supporting its classifications as a single peroxisomal enzyme deficiency. Virchows Arch 436 459-465... 

Group 2 contains the single peroxisomal enzyme deficiencies [14]. This group is also subdivided in different classes, including the peroxisomal beta-oxidation deficiencies (X-linked adrenoleucodystrophy, X-ALD), acyl-CoA oxidase 1 deficiency... 

Wanders RJA, Barth PG, Heymans HSA (2001) Single peroxisomal enzyme deficiencies. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 3219-3256... 

Wanders, R. J., and Waterham, H. R. Peroxisomal disorders the single peroxisomal enzyme deficiencies. Biochim Biophys Acta 1763 (2006) 1707-1720. 

A number of inherited deficiencies of peroxisomal enzymes have been described. Zellweger s syndrome, which results from defective peroxisomal biogenesis, leads to complex developmental and metabolic phenotypes affecting principally the liver and the brain. One of the metabolic characteristics of these diseases is an elevation of C26 0, and C26 1 fatty acid levels in plasma. Refsum s disease is caused by a deficiency in a single peroxisomal enzyme, the phytanoyl CoA hydroxylase that carries out a-oxidation of phytanic acid. Symptoms include retinitis pigmentosa, cerebellar ataxia, and chronic polyneuropathy. Because phytanic acid is obtained solely from the diet, placing patients on a low-phytanic acid diet has resulted in marked improvement. 

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