Diseases peroxisomal

Peroxisomal Diseases Laboratory, Kennedy Krieger Institute, Baltimore/Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam. X-linked adrenoleukody-strophy database. Available on line at www. x-ald. nl/. 

Pipecolic acid Peroxisomal disease AASA dehydrogenase deficiency Hyperlysinemia ... 

Unfortunately, a minority of the patients with peroxisomal dysfunction cannot be diagnosed using plasma parameters. In the authors laboratory, patients have been seen with peroxisome biogenesis defects, D-bifunctional protein deficiency, and acyl-CoA oxidase deficiency in whom no abnormalities of plasma VLCFA, phytanic acid, pristanic acid or bile acids could be established. Hence, a strong clinical suspicion of peroxisomal disease should always be verified by fibroblast investigation, regardless of the outcome of plasma analyses. 

Moser AB, Kreiter N, Bezman L, Lu S, Raymond G V, Naidu S, Moser HW (1999) Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 45 100-110... 

Cholesterol and phospholipids. Most lipids found in myelin are common to other cellular membranes. Cholesterol content is high and cholesterol esters are not present in normal myelin. Phospholipids are also common to other cellular membranes, except for the great quantity of ethanolamine phosphoglycerides in the plasmalogen form. The synthesis of plasmalogens is modified in Zellweger syndrome which is a peroxisomal syndrome that also increases VLCFA. This syndrome and other peroxisomal diseases may cause demyelination (Powers, 2005). 

Several genetic diseases involving the peroxisomes have been discovered and characterized. These diseases result in the accumulation of very-long-chain fatty acids (26 0) in certain tissues of the body (adrenal gland and brain). This fatty add may incrcasi by some 20-fold in the brain. The peroxisomal diseases can result in loss of the myelin layer of nerves (demyelination) and in seizures, spasticity, nrental retardation, and death. 

Peroxisomal disease, 632- 3 Peroxisome proliferation activated receptor, sec PPAR Peroxbmmes, 6S3 Penjxynitrite, 916 Peyex s patches, 135-136 Phagemids defined, 951... 

Martinez, M. (1991) Developmental profiles of polyunsaturated fatty acids in the brain of normal infants and patients with peroxisomal diseases severe deficiency of docosahexaenoic acid in Zellweger s and pseudo-Zellweger s syndomes. World Rev. Nutr. Diet. 66 87-102. 

Martinez, M. (1994) Polyunsaturated fatty acids in the developing human brain, red cells and plasma influence of nutrition and peroxisomal disease. Fatty acids and lipids biological aspects. (Galli, C., Simpolous, A.P. and Tremoli, E., eds.). World Rev. Nutr. Diet. Karger, vol. 75, pp. 70-78. 

Martinez, M. (1995) Polyunsaturated fatty acids in the developing human brain, erythrocytes and plasma in peroxisomal disease therapeutic implications. J. Inherit. Metab. Dis. 18 S61-S75. 

Wanders, R.J.A., Vreken, P., Ferdinandusse, S., Jansen, G.A., Waterham, H.R., van Roermund, C.W.T., van Grunsven, E.G. 2001. Peroxisomal fatty acid a- and P-oxidation in humans enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem. Soc. Trans. 29 250-267. 

Peroxisomal Diseases. Peroxisomal diseases are caused by mutations affecting either the synthesis of functional peroxisomal enzymes or their incorporation into peroxisomes. For example, adrenoleukodystrophy probably involves a mutation that decreases the content of a transporter in the peroxisomal membrane. Zellweger s syndrome is caused by the failure to complete the synthesis of peroxisomes. 

For some diseases (nonketotic hyperglycemia, molybdenum cofactor deficiency, sulfite oxidase deficiency), progressive encephalopathy is the main presenting symptom. In others (peroxisomal diseases, glycosylation disorders), aggravation of the chronic disease is caused by illness (e.g., infections). 

Perichon, R, Moser, AB, Wallace, WC, Cunningham, SC, Roth, GS and Moser, HW (1998) Peroxisomal disease ceU hnes with cellular plasmalogen deficiency have impaired muscarinic chohnergic signal transdnction activity and amyloid precursor protein secretion. Biochem Biophys Res Commun, 248, 57-61. 

Suzuki, K and Vanier, MT (1999) Lysosomal and peroxisomal diseases. In Basic Neurochemistry - Molecular, Cellular and Medical Aspects, 6th edn (GJ Siegel, BW Agranoff, RW Albers, SK Fisher and MD Uhler, eds), Lippincott-Raven, Philadelphia, pp.821-839. 

Virtually all markers of peroxisomal function are lipid-boimd or protein-bound they are present in the plasma, but they are not excreted into the urine. Exceptions are the water-soluble glycine-, taurine-, or glucuronic acid conjugates of bile acids which may be found in the urine. The general clinical chemistry lab will not give consistent clues to the existence of peroxisomal disease as there is no readily accessible end product of peroxisomal substrates. 

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