Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease patients can be divided into at least five distinct groups, according to the nature of their plasma changes and their fibroblast phytanic acid oxidase activities. The biochemical changes in the plasma vary from an increase in a single metabolite or group of structurally related metabolites, such as in X-linked adrenoleukodystrophy (ALD) and classical Refsum's disease, to an increase in a number of structurally distinct metabolites, as in neonatal ALD/Zellweger syndrome, and infantile Refsum's disease. All patients, with the exception of those with the X-linked form of adrenoleukodystrophy are deficient in phytanic acid oxidase activity. The great similarity observed in neonatal adrenoleukodystrophy/Zellweger syndrome and infantile Refsum's disease suggests that the basic biochemical lesion in each may be similar or at least closely related.
Poulos
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Sharp
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Fellenberg
A J
AJ
Danks
D M
DM
D000326:Adrenoleukodystrophy / Q000097:blood / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D001927:Brain Diseases / Q000097:blood / Q000151:congenital* / Q000201:enzymology; D002478:Cells, Cultured; D002675:Child, Preschool; D002849:Chromatography, Gas; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000151:congenital*; D004537:Eicosanoic Acids / Q000172:deficiency*; D005227:Fatty Acids / Q000097:blood; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000097:blood / Q000151:congenital* / Q000201:enzymology; D008107:Liver Diseases / Q000097:blood / Q000151:congenital* / Q000201:enzymology; D008297:Male; D006899:Mixed Function Oxygenases; D010088:Oxidoreductases / Q000172:deficiency*; D010831:Phytanic Acid / Q000097:blood / Q000172:deficiency*; D010875:Pipecolic Acids / Q000097:blood; D012035:Refsum Disease / Q000097:blood / Q000151:congenital* / Q000201:enzymology; D012867:Skin / Q000201:enzymology*; D013577:Syndrome; D014960:X Chromosome
D004537:Eicosanoic Acids; D005227:Fatty Acids; D010875:Pipecolic Acids; D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; D010088:Oxidoreductases; C022397:phytanic acid alpha-oxidase; C031345:pipecolic acid