Phytanic acid: production from phytol, its breakdown and role in human disease.
Phytanic acid is a branched-chain fatty acid that accumulates in a variety of metabolic disorders. High levels of phytanic acid found in patients can exceed the millimolar range and lead to severe symptoms. Degradation of phytanic acid takes place by alpha-oxidation inside the peroxisome. A deficiency of its breakdown, leading to elevated levels, can result from either a general peroxisomal dysfunction or from a defect in one of the enzymes involved in alpha-oxidation. Research on Refsum disease, belonging to the latter group of disorders and characterized by a deficiency of the first enzyme of alpha-oxidation, has extended our knowledge of phytanic acid metabolism and pathology of the disease greatly over the past few decades. This review will centre on this research on phytanic acid: its origin, the mechanism by which its alpha-oxidation takes place, its role in human disease and the way it is produced from phytol.
van den Brink
D M
DM
Laboratory of Genetic Metabolic Diseases (F0-224), Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Wanders
R J A
RJ
D000445:Aldehyde Oxidoreductases / Q000378:metabolism; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000378:metabolism; D006801:Humans; D010084:Oxidation-Reduction; D018901:Peroxisomal Disorders / Q000378:metabolism*; D020675:Peroxisomes / Q000378:metabolism; D010831:Phytanic Acid / Q000378:metabolism*; D010836:Phytol / Q000378:metabolism*; D021381:Protein Transport; D012035:Refsum Disease / Q000378:metabolism
D010831:Phytanic Acid; D010836:Phytol; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase