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.
Moser, BA, is affiliated with Kennedy Krieger Institute (
Peroxisomal Diseases Laboratory)
The following situations should be considered in the differential diagnosis of CDP:
peroxisomal diseases (Zellweger Syndrome, adrenoleukodystrophy, and infantile Refsum disease), maternal disease, and exposure to warfarin, Smith-Lemli-Opitz Syndrome, and foetal alcohol syndrome [2,9,10].
Peroxisomal fatty acid [alpha]- and [beta]-oxidation in humans: enzymology, peroxisomal metabolite transporters and
peroxisomal diseases. Biochem Soc Trans.
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 <0.0001).