Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase.
The concentration of pristanic acid was measured in plasma from a patient with an isolated peroxisomal very long chain fatty acid (VLCFA) acyl-CoA oxidase deficiency, a defect in peroxisomal beta-oxidation resulting in accumulation of VLCFA in plasma and tissues. Although peroxisomes are believed to be involved in pristanic acid beta-oxidation, the pristanic acid level in the patient's plasma was within the control range. This finding provides evidence for the existence of a pristanyl-CoA oxidase distinct from the specific trihydroxycholestanoyl-CoA and VLCFA acyl-CoA oxidases.
ten Brink
H J
HJ
Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands.
Poll-The
B T
BT
Saudubray
J M
JM
Wanders
R J
RJ
Jakobs
C
C
D042962:Acyl-CoA Oxidase; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008830:Microbodies / Q000201:enzymology*; D010084:Oxidation-Reduction; D010088:Oxidoreductases / Q000172:deficiency* / Q000378:metabolism*; D010831:Phytanic Acid / Q000097:blood
D005227:Fatty Acids; D010831:Phytanic Acid; C002844:pristanic acid; D010088:Oxidoreductases; C066272:pristanoyl-CoA oxidase; D042962:Acyl-CoA Oxidase