Abstract
The cerebro-hepato-renal (Zellweger) syndrome (ZS, McKusick 21410) is an autosomal recessive disease characterised clinically by severe hypotonia, typical craniofacial dysmorphism, hepatomegaly, disturbances in liver function, renal cysts, failure to thrive and severe psychomotor and sensorial retardation. The disease is usually lethal within the first year of life; no effective treatment is available. Biochemical characteristics are the absence of morphologically distinct peroxisomes (microbodies) in liver and kidney (Goldfischer et al., 1973), an accumulation of very long chain fatty acids (Brown et ai, 1982), trihydroxycoprostanoic acid (Hanson et al., 1979) and pipecolic acid (Danks et al., 1975) in blood and urine and the virtual absence of plasmalogens in tissues (Heymans, 1984). Furthermore, we found that the peroxisomal enzyme dihydroxy-acetone phosphate acyltransferase (DHAP-AT; EC 2.3.1.42), which catalyzes the first step in the biosynthetic route of ether phospholipids, is deficient in tissues and cultured skin fibroblasts of ZS patients (Schutgens et al, 1984).
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Schutgens, R.B.H., Heymans, H.S.A., Wanders, R.J.A., van den Bosch, H., Schrakamp, G. (1985). Prenatal Diagnosis of the Cerebro-hepato-renal (Zellweger) Syndrome by Detection of an Impaired Plasmalogen Biosynthesis. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_49
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DOI: https://doi.org/10.1007/978-94-011-8019-1_49
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