Peroxisomal disease Peroxisome biogenesis disorders (PBDs) Zellweger spectrum disorders Zellweger syndrome (ZS) Neonatal adrenoleukodystrophy (NALD) Infantile Refsum disease (IRD) Rhizomelic chondrodysplasia punctata (RCDP) Single-enzyme deficiencies Adrenoleukodystrophy (ALD) Acyl-CoA oxidase deficiency D-Bifunctional protein deficiency 3-Ketoacyl-CoA thiolase deficiency Refsum disease (phytanyl-CoA hydroxylase deficiency), [alpha]-Methylacyl-CoA racemase deficiency Hyperoxaluria type I (alanine glyoxylate aminotransferase deficiency) Mevalonate kinase deficiency Glutaric aciduria 3 (glutaryl-CoA oxidase deficiency) Acatalasemia Table 3.
Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion.
However, the values for L-PA in this particular pediatric population should be studied to determine cutoff values from early-onset
peroxisomal disease patients.
ALD is the most common
peroxisomal disease, afflicting 1 in 20 000 male newborns.
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.