The effect of a high fat diet on pyruvate decarboxylase deficiency without central nervous system involvement.
A nine-year-old Japanese boy with low pyruvate decarboxylase activity in fibroblasts showed no central nervous symptoms except for muscle fatigue. The pyruvate decarboxylase activities in fibroblasts of the patient and two control subjects were 0.407 +/- 0.083, 1.029 +/- 0.137 and 1.607 +/- 0.096 mumoles/g protein/30 min, respectively. The Michaelis-Menten constant (Km) was the same in the patient and controls. There was no inhibitor of pyruvate decarboxylase in the patient's fibroblasts. A high fat diet has been given to the patient for five years. At present he does not complain of any kind of muscle fatigue, except after severe exercise. Mental and physiological development of the patient are within the normal ranges. However, trials of orally administered thiamine hydrochloride or thiamine hydrochloride combined with lipoamide did not improve his muscle fatigue.
D002262:Carboxy-Lyases / Q000172:deficiency*; D002648:Child; D004041:Dietary Fats / Q000008:administration & dosage*; D004569:Electroencephalography; D005221:Fatigue / Q000628:therapy*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D005082:Physical Exertion; D011767:Pyruvate Decarboxylase / Q000172:deficiency*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D013577:Syndrome; D013831:Thiamine / Q000627:therapeutic use; D008063:Thioctic Acid / Q000031:analogs & derivatives / Q000627:therapeutic use
D004041:Dietary Fats; D008063:Thioctic Acid; C013091:lipoamide; D002262:Carboxy-Lyases; D011767:Pyruvate Decarboxylase; D013831:Thiamine