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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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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.
Peroxisome biogenesis and human peroxisome-deficiency disorders
Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion.
Variation in human erythrocyte membrane unsaturated fatty acids: correlation with cardiovascular disease
However, the values for L-PA in this particular pediatric population should be studied to determine cutoff values from early-onset peroxisomal disease patients.
Determination of L-pipecolic acid in plasma using chiral liquid chromatography--electrospray tandem mass spectrometry
ALD is the most common peroxisomal disease, afflicting 1 in 20 000 male newborns.
Very long chain fatty acid analysis of dried blood spots on filter paper to screen for adrenoleukodystrophy
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
Moser, BA, is affiliated with Kennedy Krieger Institute (Peroxisomal Diseases Laboratory)
The fight for A national newborn screening For x-linked ADRENOLEUKODYSTROPHY: In 2005, Dr. Hugo Moser suggested to the national newborn screening committee that ALD be added to the list of disorders that would benefit from newborn screening. However, at that time, there was no test for ALD utilizing the sample collected on all newborns, the heel stick blood spot on filter paper
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].
A case of rhizomelic chondrodysplasia punctata in newborn
Peroxisomal fatty acid [alpha]- and [beta]-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem Soc Trans.
Suplementacion con carnitina para perder peso: una aproximacion bioquimica
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
Moser, BA, is affiliated with Kennedy Krieger Institute's Peroxisomal Diseases Laboratory.
July 2013 update on the status of ALD newborn screening

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