Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome
نویسندگان
چکیده
منابع مشابه
Zellweger syndrome (cerebro-hepato-renal syndrome).
A syndrome with distinctive clinical features affecting brain, liver and kidneys was described by Bowen et al in 1964 1 and Smith et al. in 1965 2 . In 1973 Goldfisher et al 3 has reported that peroxisomes were absent in the liver and kidneys of affected children. More recently lack of dihydroxyacetone phosphate acyletransferase (DHAP-AT) a peroxisomal enzyme with a major role in glycerol ether...
متن کاملBand heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome).
Zellweger syndrome (cerebro-hepato-renal syndrome) is associated with generalized hypotonia, high forehead with flattened facies, hepatomegaly and talipes equinovarus. This pattern of malformations was first recognized in 1964 by Bowen and Smith. Zellweger syndrome is an autosomal recessive genetic disorder that is associated with multiple biochemical markers of peroxisomal dysfunction. A full ...
متن کاملAlkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.
The cerebro-hepato-renal (Zellweger) syndrome is an autosomal recessive disorder biochemically characterized by the absence of morphologically distinguishable peroxisomes. Key enzymes involved in the biosynthesis of ether phospholipids, i.e., dihydroxyacetone phosphate acyltransferase and alkyl dihydroxyacetone phosphate synthase, are located in mammalian (micro)peroxisomes. We have previously ...
متن کاملTapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome.
Electrophysiological and histopathological study of a baby suffering from Zellweger's syndrome and presenting progressive retinal dysfunction showed this to be related to degenerative changes in the photoreceptor cells and pigment epithelium and to defective myelination of the optic nerve. Disturbances of bile acid and lysine metabolism were also demonstrated, lending support to the concept tha...
متن کاملUpregulation of acyl-CoA: cholesterol acyltransferase in chronic renal failure.
Chronic renal failure (CRF) is associated with profound abnormalities of lipid metabolism and accelerated arteriosclerotic cardiovascular disease. In a recent study, we found marked downregulation of hepatic lecithin-cholesterol acyltransferase, or LCAT, expression, which can account for impaired HDL maturation and depressed HDL cholesterol concentration in CRF. Here, we report on the effect of...
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ژورنال
عنوان ژورنال: Biochemical and Biophysical Research Communications
سال: 1984
ISSN: 0006-291X
DOI: 10.1016/0006-291x(84)91430-x