Impaired mitochondrial pyruvate importation in a patient and a fetus at risk
M Brivet, A Garcia-Cazorla, S Lyonnet, Y Dumez… - Molecular genetics and …, 2003 - Elsevier
The patient was the first child of healthy consanguineous parents. She presented at birth
with hypotonia, mild facial dysmorphism, periventricular cysts, marked metabolic acidosis,
hyperlactacidemia with normal lactate/pyruvate molar ratios, normoglycemia, and normal
ammonia. Hyperlactacidemia was severe (5–14mmol/l) and not corrected with bicarbonate,
thiamine (10mg/d), 2-chloropropionate (100mg/kg/d) and a ketogenic diet. Pyruvate
dehydrogenase (PDHC) activity was normal in lymphocytes and fibroblasts. Functional …
with hypotonia, mild facial dysmorphism, periventricular cysts, marked metabolic acidosis,
hyperlactacidemia with normal lactate/pyruvate molar ratios, normoglycemia, and normal
ammonia. Hyperlactacidemia was severe (5–14mmol/l) and not corrected with bicarbonate,
thiamine (10mg/d), 2-chloropropionate (100mg/kg/d) and a ketogenic diet. Pyruvate
dehydrogenase (PDHC) activity was normal in lymphocytes and fibroblasts. Functional …
