Lack of alpha-oxidation of fatty acids leads to
Refsum&;s Disease It is a metabolic error due to lack of alpha-hydroxylase (phytanic acid oxidase) so that alpha-oxidation does not occur and phytanic acid accumulates in the tissues. The patient presents with severe neurological symptoms, polyneuropathy, retinitis pigmentosa, nerve deafness and cerebellar ataxia. Regressions of symptoms are observed with restricted dietary intake of phytanic acid. Milk is a good source of phytanic acid, which may be avoided.Ref: DM Vasudevan - Textbook of Biochemistry, 6th edition, page no: 135
Accumulation of phytanic acid
Formation of dicarboxylic acid
Formation of propionic acid
Oxidation of branched chain fatty acid
Metabolism of lipid