References in periodicals archive
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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.
Samples from patients with peroxisomal disease were selected based on previously determined VLCFA values as determined by GC-MS and literature reference intervals (see Table 2) (18,19).
However, the values for L-PA in this particular pediatric population should be studied to determine cutoff values from early-onset peroxisomal disease patients.
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.
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.
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).
PART VI: Inherited and Neurodegenerative Diseases Peripheral Neuropathy Diseases Involving Myelin The Epilepsies: Phenotype and Mechanisms Genetics of Neurodegenerative Diseases Disorders of Amino Acid Metabolism Diseases of Carbohydrate, Fatty Acid and Mitochondrial Metabolism, including Lysosomal and Peroxisomal Diseases Disorders of Muscle Excitability Motor Neuron Diseases Neurobiology of Alzheimer's Disease Neurodegenerative alpha-Synucleinopathies and Tauopathies Trinucleotide repeat diseases Neurotransmitters and Disorders of the Basal Ganglia Molecular Basis of Prion Diseases
Moser, BA, is affiliated with Kennedy Krieger Institute's Peroxisomal Diseases Laboratory.
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