Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.
Friedreich's ataxia (FRDA) is caused by point mutations or trinucleotide repeat expansions in both alleles of the gene encoding frataxin. Studies of frataxin homologues in lower eukaryotes suggest that mitochondrial iron accumulation may underlie the pathophysiology of FRDA. To evaluate the possible role of iron-chelation therapy for FRDA, we measured serum iron and ferritin concentrations in 10 FRDA patients. The measurements were within normal limits, suggesting that iron-chelation therapy for FRDA may be problematic.
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.
R B
RB
Wilson
D R
DR
Lynch
K H
KH
Fischbeck
D000293:Adolescent; D000328:Adult; D002648:Child; D005293:Ferritins / Q000097:blood*; D005621:Friedreich Ataxia / Q000097:blood*; D006801:Humans; D007501:Iron / Q000097:blood*; D008875:Middle Aged
D005293:Ferritins; D007501:Iron