Abstract
A patient suffering from pyruvate carboxylase (PC) deficiency was observed during more than 2 years. Psychomotor retardation, muscular hypotonia and abundant subcutaneous fat were present. The neurologic picture was not suggestive for Leigh's disease. An extreme hyperlactacidemia (ranging from 4-20 mM) was observed. Prolonged fasting induced hypoglycemia, which was absent during a similar experiment 6 months later. A severe ‘diabetic’ ketoacidosis was observed after the first fasting experiment. Low insulin levels were assessed. Besides high urinary concentrations of lactic acid, increased concentrations of malic acid, fumaric, succinic, and α-ketoglutaric acid were observed. PC-activity, (determined immediately), was shown to be extremely decreased in liver tissue. Pyruvate dehydrogenase activity (liver, leucocytes), PEP-carboxykinase- (liver)and fructose-l,6-diphosphatase - (liver) were normal. Administration of the coenzymes of pyruvate carboxylase and the pyruvate dehydrogenase complex, of supplements of Mg++, of aspartic acid, glutamic acid combined with pyridoxin did not improve the hyperlactacidemia. A chronic granulocytopenia was observed. Severe bacterial infections have not occurred. Normal granulocyte concentrations were observed during bacterial infections, stress or epinephrine administration.
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