Download Advances in Human Genetics 21 by Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.) PDF

By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)

The present quantity comprises chapters on peroxisomal issues, genetic elements of melanoma, Gaucher sickness, and different topics.

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Absence or Reduced Number of Catalase-Containing Subcellular Particles. " Irrespective of the precise terminology, this finding rests upon the seminal observation made by Goldfischer et al. (1973), which provided the foundation for all our knowledge about peroxisomal disorders. These investigators studied liver and kidney biopsy specimens of two children with classical Zellweger syndrome and searched for peroxisomes by using the diaminobenzidine reaction described by Novikoff and Goldfischer (1969) which stains catalase, a procedure that has since been modified and made more specific by Roels and Goldfischer (1979).

Table V shows the changes in plasma levels observed in our clinic. The abnormality is greater in the Zellweger syndrome than in NALD and infantile Refsum disease. Poulos and associates have demonstrated the accumulation of polyenoic fatty acids with chain lengths up to 38 in the brain (Sharp et al. , 1987) and plasma (Poulos et al. , 1989) of patients with Zellweger syndrome. , 1991) and they may be of considerable physiological significance. In the retina, where the structure and function are severely disturbed in Zellweger syndrome, the fatty acid composition of phosphatidylcholine normally influences its binding to rhodopsin (Aveldano, 1988).

1986a). Accumulation and Impaired Catabolism of Pipecolic Acid. , 1986a). , 1986). Pipecolic acid levels in blood and urine are age-dependent (Dancis and Hutzler, 1986; Kelley, 1991). Table VI shows that with the use of a From Kelley, 1991. Used by permission. ::l I' c 3 !!. 2~' '8 DI 1. ~ o 38 Hugo W. Moser sensitive isotope dilution method abnormally high levels can be demonstrated in all patients with disorders of peroxisome biogenesis irrespective of age. , 1991). Accumulation of Intermediates of Bile Acid Metabolism.

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