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).

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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References in periodicals archive ?

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

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 <0.0001).

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