peroxisomal disease

peroxisomal disease

Any of a heterogeneous group of diseases in which peroxisomes are either lacking or markedly ↓, resulting in metabolic defects in all major biosynthetic peroxisomal pathways and failure to synthesize lipids or oxidize long-chain fatty acids Examples Zellweger's cerebrohepatorenal syndrome, rhizomelic chondrodysplasia punctata, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia
References in periodicals archive ?
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.
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).
ALD is the most common peroxisomal disease, afflicting 1 in 20 000 male newborns.
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.

Full browser ?