Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.
We report the biochemical and clinical results obtained during a dietary erucic acid (C22:1) therapy in 20 patients affected by X-linked adrenoleukodystrophy (ALD). Six patients were very severely affected, 9 had milder neurological symptoms and 5 were presymptomatic. Mean basal levels of plasma C26:0 were 1.41 +/- 0.48 micrograms/ml in ALD patients (control values: 0.33 +/- 0.12). In all patients C26:0 decreased to virtually normal values. In spite of good biochemical response and absence of consistent side effects of therapy, no encouraging data were observed during the clinical follow-up. The presymptomatic subjects were still free of symptoms after more than 1 year of therapy. The symptomatic patients, however worsened or did not show any improvement.
Uziel
G
G
Divisione di Neuropsichiatria Infantile, Istituto Neurologico C. Besta, Milano, Italia.
Bertini
E
E
Bardelli
P
P
Rimoldi
M
M
Gambetti
M
M
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000178:diet therapy* / Q000378:metabolism; D000328:Adult; D002648:Child; D003066:Coenzyme A Ligases / Q000172:deficiency / Q000378:metabolism; D004041:Dietary Fats / Q000008:administration & dosage / Q000627:therapeutic use*; D004200:Diseases in Twins; D004883:Erucic Acids / Q000627:therapeutic use*; D005227:Fatty Acids / Q000378:metabolism*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008830:Microbodies / Q000201:enzymology; D014429:Twins, Dizygotic
D004041:Dietary Fats; D004883:Erucic Acids; D005227:Fatty Acids; C049811:erucic acid; D003066:Coenzyme A Ligases; C044125:lignoceroyl-CoA ligase