Infantile Refsum disease

IRD infantile Refsum disease MPTP l-methyl-4-phenyl-1,2,3,6-tetrahydropyridine... 

The elevation of VLCFA can be detected in most body tissues and fluids and forms the basis for a diagnostic assay for the identification of affected individuals.The most frequently used test is the measurement of VLCFA in plasma which has been shown to be very sensitive. Although VLCFA are increased in some of the other peroxisomal disorders, including Zellweger syndrome, infantile Refsum disease, and neonatal ALD, the clinical presentations of these disorders are very different from X-ALD, and the discrimination of... 

Goez, H., Meiron, D., Horowitz, J., Schutgens, R.H., Wanders, R.J.A., Berant, M., Mandel, H. Infantile Refsum disease neonatal cholestatic jaundice. Presentation of a peroxismal disorder. J. Pediatr. Gastroenterol. Nutr. 1995 20 98-101... 

Schram, A.W., Strijland, A., Hashimoto, T., Wanders, R.J.A., Schutgens, R.B.H., van den Boseh, H. Tager, J.M. (1986) Proc. Natl. Acad Sci. U. S. A. 16, 6156-6158. Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. 

Infantile Refsum disease (IRD) Peroxins Generalized Multiple loci 266510... 

In the meantime plasmalogen levels should be measured in erythrocytes, using the method described by Bjorkhem et al [18] or another established method like the one described by Vreken et al. [19]. If plasmalogens are decreased, a peroxisome biogenesis defect is established. If plasmalogens are normal, however, it probably is a POD but it may also be a peroxisome biogenesis defect simply because in milder PDB forms, notably infantile Refsum disease patients, plasmalogens may be completely normal. 

Infantile neuronal ceroid lipofuscinosis Infantile Refsum disease Intermittent acute porphyria Isovaleric acidemia... 

IRD, infantile Refsum s disease NALD, neonatal adrenoleukodystrophy ZS, Zellweger s syndrome. 

Cerebrohepatorenal (Zellweger s) syndrome Infantile Refsum s disease Neonatal adrenoleukodystrophy Rhizomelic chondrodysplasia punctata Hyperpipecolic acidemia Genetic diseases with generalized impairment of peroxisomal function but normal number of peroxisomes... 

Scotto JM, Hadchouel M, Odievre M, Laudat MH. Saudubray JM, Dulac (). et al. Infantile phytanic acid storage disease, a possible variant of Refsum s disease three cases, including ultrastructural studies of the liver. J Inherited Metab Dis 1982 5(2) 83—90. 

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