1.
Neurology
; 68(9): 698-700, 2007 Feb 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17325280
RESUMO
The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, we propose the subdivision of ARD into type 1 and type 2, depending on which gene is defective.