Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain.
Deficiency of mitochondrial trifunctional protein (TP), beta-oxidation enzyme, is characterized by recurrent rhabdomyolysis in adult patients. Positron emission tomography was used to measure brain oxygen (CMRO(2)) and glucose (CMRGlc) metabolisms in an adult patient with TP deficiency who had a homozygous G1331A transition of the beta-subunit gene. The molar ratio of oxygen to glucose consumption showed diffuse reduction; CMRO(2) was markedly decreased, whereas CMRGlc increased. Oxidative metabolism may be impaired and anaerobic glycolysis stimulated in the brain of this patient with TP deficiency.
Miyajima
H
H
The First Department of Medicine, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu 431-3192, Japan. miyajima@hama-med.ac.jp
Ouchi
Y
Y
Sakamoto
M
M
Takahashi
Y
Y
Kono
S
S
Suzuki
H
H
D000328:Adult; D000368:Aged; D000483:Alleles; D000693:Anaerobiosis; D001921:Brain / Q000378:metabolism*; D005260:Female; D006019:Glycolysis / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency*; D009154:Mutation / Q000235:genetics*; D010100:Oxygen / Q000378:metabolism*; D012206:Rhabdomyolysis / Q000378:metabolism*; D014055:Tomography, Emission-Computed
D009097:Multienzyme Complexes; D063991:Mitochondrial Trifunctional Protein; D010100:Oxygen