Is Phytanate Accumulation Pathognomonic for Heredopathia Atactica Polyneuritiformis?

Abstract

To the Editor. —Heredopathia atactica polyneuritiformis or Refsum disease in its classic presentation is an autosomal recessive disorder of lipid metabolism characterized by the accumulation of phytanic acid in the blood and tissues due to deficient oxidation of this 20-carbon-branched fatty acid. The clinical features of this condition are characterized by retinitis pigmentosa, chronic polyneuropathy, cerebellar ataxia, and raised cerebrospinal fluid protein levels. Additional signs such as anosmia, sensorineural hearing loss, cataract, skeletal malformations, cardiomyopathy, and ichthyo sislike skin changes may form part of the picture. None of the single manifestations is in itself specific or pathognomonic for Refsum disease, except for the disturbance of phytanate metabolism. 1 This has, until now, been considered diagnostic for the disease, though phytanic acid levels have recently been found to be elevated in some peroxisomal disorders, including Zellweger syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. 2 Biochemically, peroxisomal disorders and