Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

Peroxisomal disorders represent a group of disorders in which there is an impairment in one or more peroxisomal functions. Clinically, a dysfunction of peroxisomes results in most cases in neurologic symptoms of varying extent ranging from severe neurologic symptoms in children to late-onset disease in adults. In most peroxisomal disorders there is ocular and hearing involvement in combination with a multitude of other clinical manifestations. The peroxisomal disorders are subdivided into two major groups: (1) the peroxisome biogenesis disorders (PBDs), and (2) the single peroxisome enzyme deficiencies. The PBD group comprises the Zellweger spectrum disorders (ZSDs) and rhizomelic chondrodysplasia punctate type 1 (RCDP1) whereas the single peroxisomal enzyme deficiency group contains several different disorders including X-linked adrenoleukodystrophy as the most frequent disorder. Laboratory diagnosis of a peroxisomal disorder involves a variety of different biochemical assays in blood and urine, and should be followed up by detailed biochemical and celbiological studies in cultured fibroblasts including complementation analysis. Prenatal diagnosis is possible either by biochemical testing or by molecular analysis.

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Ruthenium Red Staining of Human Hard Keratin Fibers

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100054005 ◽

1982 ◽

Vol 40 ◽

pp. 278-279

Author(s):

M. C. Buhrer ◽

R. A. Mathews

Keyword(s):

Human Hair ◽

Ruthenium Red ◽

Acid Mucopolysaccharides ◽

Biochemical Studies ◽

Keratin Fibers ◽

Ruthenium Red Staining ◽

Extracellular Materials

Ruthenium red has been used as a stain to demonstrate a variety of extracellular materials, especially acid mucopolysaccharides. It also reacts with certain intracellular and extracellular lipids. Since biochemical studies in our laboratory demonstrated the presence of a variety of monosaccharides in human hair ruthenium red staining procedures were adopted in order to evaluate the presence and morphological location of acid oligosaccharides in the keratinized aspect of hair.

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Effects of Hypophysectomy on the Fine Structure of Rat Liver Cells

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100060799 ◽

1967 ◽

Vol 25 ◽

pp. 156-157

Author(s):

Robert R. Cardell

Keyword(s):

Electron Microscopy ◽

Fine Structure ◽

Rat Liver ◽

Liver Cell ◽

Anterior Pituitary ◽

Liver Cells ◽

Biochemical Studies ◽

Liver Functions ◽

Rat Liver Cells ◽

And Control

Hypophysectomy of the rat renders this animal deficient in the hormones of the anterior pituitary gland, thus causing many primary and secondary hormonal effects on basic liver functions. Biochemical studies of these alterations in the rat liver cell are quite extensive; however, relatively few morphological observations on such cells have been recorded. Because the available biochemical information was derived mostly from disrupted and fractionated liver cells, it seemed desirable to examine the problem with the techniques of electron microscopy in order to see what changes are apparent in the intact liver cell after hypophysectomy. Accordingly, liver cells from rats which had been hypophysectomized 5-120 days before sacrifice were studied. Sham-operated rats served as controls and both hypophysectomized and control rats were fasted 15 hours before sacrifice.

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