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).

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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.

Rhizomelic Chondrodysplasia punctata: a rare case report

Peroxisomal fatty acid [alpha]- and [beta]-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.

Suplementacion con carnitina para perder peso: una aproximacion bioquimica

Peroxisomal fatty acid [alfa]- and [beta]-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.

Carnitina un osmolito muy importante para la oxidacion mitocondrial de acidos grasos

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).

Assay for Sjogren--Larsson syndrome based on a deficiency of phytol degradation

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

Research and Markets: Basic Neurochemistry. Edition No. 8

Moser, BA, is affiliated with Kennedy Krieger Institute's Peroxisomal Diseases Laboratory.

July 2013 update on the status of ALD newborn screening

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.

Determination of L-pipecolic acid in plasma using chiral liquid chromatography--electrospray tandem mass spectrometry