Menkes disease: study of the mitochondrial respiratory chain in three cases.
Mitochondrial oxidative metabolism in three patients with typical Menkes disease was studied. In two cases, a general decrease in all of the respiratory chain complex activities (I, II, III and IV) was observed. However, in the most severe case, these activities were entirely normal. Our results emphasize the diversity of the cellular expression of Menkes disease which can, in some cases, be associated with a mitochondrial encephalomyopathy.
Pedespan
J M
JM
Unité de Neurologie Pédiatrique, Hôpital Pellegrin, Bordeaux, France.
Jouaville
L S
LS
Cances
C
C
Letellier
T
T
Malgat
M
M
Guiraud
P
P
Coquet
M
M
Vernhet
I
I
Lacombe
D
D
Mazat
J P
JP
D002570:Ceruloplasmin / Q000378:metabolism; D002950:Citrate (si)-Synthase / Q000235:genetics / Q000378:metabolism; D003300:Copper / Q000378:metabolism; D003301:Copper Radioisotopes; D004579:Electron Transport / Q000235:genetics* / Q000502:physiology*; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism*; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism*; D009245:NADH Dehydrogenase / Q000235:genetics / Q000378:metabolism; D013384:Succinate Cytochrome c Oxidoreductase / Q000235:genetics / Q000378:metabolism
D003301:Copper Radioisotopes; D003300:Copper; D013384:Succinate Cytochrome c Oxidoreductase; D002570:Ceruloplasmin; D009245:NADH Dehydrogenase; D002950:Citrate (si)-Synthase