Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.

[neonatal adrenoleukodystrophy]

Zellweger syndrome , neonatal adrenoleukodystrophy , and infantile Refsum 's disease are genetic disorders characterized by the virtual absence of catalase -positive peroxisomes and a general impairment of peroxisomal functions . Recent studies in these three disorders have provided morphologic evidence of peroxisomal "ghosts " of density 1 .10 g /cm 3 that contain membrane proteins but lack a majority of the matrix enzyme activities . We report here the biochemical studies in a female infant with clinical features of infantile Refsum 's disease whose liver and fibroblasts contained cytosolic catalase but no catalase -positive peroxisomes . Oxidation of phytanic and pipecolic acids was severely impaired , whereas oxidation of very -long -chain fatty acids and dihydroxyacetone phosphate acyltransferase activity were only partially decreased . Immunoblot analysis showed that the three peroxisomal beta -oxidation enzymes (acyl-CoA oxidase , enoyl-CoA hydratase /3 -hydroxyacyl-CoA dehydrogenase , and 3 -ketoacyl-CoA thiolase ) were detectable in liver tissues . The 3 -ketoacyl-CoA thiolase was of the mature form (41 kD ), in contrast with other peroxisomal disorders with multiple enzyme deficiencies . The majority of these peroxisomal enzyme activities were associated with two subcellular membrane vesicle fractions lacking catalase : one had the density of normal peroxisomes (1 .17 g /cm 3 ), the other , yet undescribed , a lower density (1 .137 g /cm 3 ). This suggests that peroxisomes (density = 1 .17 g /cm 3 ) and structures with lower density (density = 1 .137 g /cm 3 ) found in this patient 's cultured skin fibroblasts , although lacking catalase , contained functional peroxisomal enzymes . This distinguishes this disorder from other disorders of peroxisome biogenesis .

Diseases
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Diseases presenting "dihydroxyacetone phosphate acyltransferase activity were only partially decreased" symptom

neonatal adrenoleukodystrophy

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