Kearns-Sayre syndrome and complex II deficiency.
A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microscopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.
Rivner
M H
MH
Department of Neurology, Medical College of Georgia, Augusta 30912-3215.
Shamsnia
M
M
Swift
T R
TR
Trefz
J
J
Roesel
R A
RA
Carter
A L
AL
Yanamura
W
W
Hommes
F A
FA
D000328:Adult; D001706:Biopsy; D042963:Electron Transport Complex II; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000473:pathology; D008854:Microscopy, Electron; D009097:Multienzyme Complexes / Q000172:deficiency*; D009132:Muscles / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D009886:Ophthalmoplegia / Q000150:complications*; D010088:Oxidoreductases / Q000172:deficiency*; D013385:Succinate Dehydrogenase / Q000172:deficiency* / Q000378:metabolism
D009097:Multienzyme Complexes; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase