Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain

Deficiency of mitochondrial trifunctional protein (TP), P-oxidation enzyme, is characterized by recurrent rhabdomyolysis in adult patients. Positron e mission tomography was used to measure brain oxygen (CMRO2) and glucose (CM RG1c) metabolisms in an adult patient with TP deficiency who had a homozygo us G1331A transition of the P-subunit gene. The molar ratio of oxygen to gl ucose consumption showed diffuse reduction; CMRO2 was markedly decreased, w hereas CMRG1c increased. Oxidative metabolism may be impaired and anaerobic glycolysis stimulated in the brain of this patient with TP deficiency. (C) 2001 Elsevier Science B.V. All rights reserved.