[Treatment of generalized peroxisomal disorders with docosahexaenoic acid ethyl ether].
BACKGROUND
We found that patients with the Zellweger syndrome and other generalized peroxisomal disorders have a dramatic decrease of docosahexaenoic acid (DHA, 22:6n-3) in the blood, brain, retina and other tissues. DHA is believed to play an important role in the brain and retina.


METHODS
Patients with the Zellweger syndrome and its variants have severe cerebral and retinal defects that could be related to their DHA deficiency. With this rationale, we have been treating peroxisomal-disorder patients with a DHA derivative of a high degree of purity (DHA ethyl ester, > 90% pure) since 1991. So far, we have treated 13 DHA-deficient peroxisomal patients, one with the classic Zellweger syndrome and 12 with milder variants of the disease. This paper presents the follow-up of these DHA-treated patients. In summary, we have found important improvements in liver function, in the plasmalogen levels and in the two ratios 26:0/22:0 y 26:1/22:0, diagnostic of the disease. We have also found clear clinical improvements in most cases. Most significantly, magnetic resonance imaging has shown advances in brain myelination, so far in 6 of the treated patients.


CONCLUSIONS
We strongly recommend treatment with DHA ethyl ester in all DHA-deficient patients with generalized peroxisomal disorders. Logically, treatment should be started as soon as possible, in the hope of preventing cerebral and visual damage.
Martínez
M
M
Hospital Materno-Infantil Vall d'Hebron, Barcelona, España. mmartinez@cinet.es
Vázquez
E
E
García-Silva
M T
MT
Beltrán
J M
JM
Castelló
F
F
Pineda
M
M
Mougan
I
I
D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000473:pathology; D004281:Docosahexaenoic Acids / Q000097:blood / Q000627:therapeutic use*; D004986:Ether / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D018901:Peroxisomal Disorders / Q000188:drug therapy* / Q000473:pathology; D016896:Treatment Outcome
D004986:Ether; D004281:Docosahexaenoic Acids