Article
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
Molecular genetics and metabolism - 1 Mar 2003
Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne M C, Slama A, Boutron A, Touati G, Legrand A, Saudubray J M
Abstract excerpt
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 (5-14 mmol/l) and not corrected with bicarbonate, thiamine (10 mg/d), 2-chloropropionate (100 mg/kg/d) and a...
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