peroxisomal diseases

peroxisomal diseases

A range of rare genetic disorders due to the absence of PEROXISOMES or their enzymes. They include Zellweger syndrome, infantile REFSUM'S DISEASE and neonatal adrenoleukodystrophy. They all feature a form of retinal degeneration (retinal dystrophy).
References in periodicals archive ?
The following situations should be considered in the differential diagnosis of CDP: peroxisomal diseases (Zellweger Syndrome, Adrenoleukodystrophy and Infantile Refsum disease), maternal exposure to warfarin, Smith-Lemli-Opitz Syndrome, and foetal alcohol syndrome.
Peroxisomal fatty acid [alpha]- and [beta]-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Peroxisomal fatty acid [alfa]- and [beta]-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Interest in phytol has focused mainly on its metabolism to phytanic acid, a fatty acid that plays an important role in Refsum disease and several other peroxisomal diseases (8,9).
Moser, BA, is affiliated with Kennedy Krieger Institute's Peroxisomal Diseases Laboratory.
From a diagnostic standpoint, the measurement of PA is considered as a supplementary test for peroxisomal diseases following the analysis of plasma very long chain fatty acids (VLCFAs), bile acids, phytanic acid, and pristanic acid.
To our knowledge, the only published studies of the stereochemistry of PA in patients with peroxisomal diseases vs healthy individuals were those of Armstrong and coworkers (16,17).
Abnormal plasma samples were those leftover from patients with peroxisomal diseases referred to our laboratory and that gave abnormal VLCFA results.
Control values for L-PA were statistically different from those for patients with peroxisomal diseases (P <0.

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