PHYTANIC ACID ALPHA-OXIDASE DEFICIENCY (REFSUM-DISEASE) PRESENTING ININFANCY

This report describes a patient with high serum phytanic acid concentr ation due to phytanic acid alpha-oxidase deficiency (classical Refsum disease). He presented unusually early, hypotonia and developmental de lay being apparent by 7 months. A generalized peroxisomal disorder (so -called 'infantile Refsum disease') was excluded by analyses of prista nic acid, very long-chain fatty acids, bile acids and plasmalogen synt hesis. The early presentation raises the possibility of in utero expos ure to phytanate.