Abstract
3 infants are reported who were born to related North American Indian parents. Each infant developed metabolic acidosis and fasting hypoglycemia shortly after birth. Blood lactate and pyruvate were greatly increased in all infants and, in siblings 2 and 3, there was marked elevation of plasma alanine, proline and glutamic acid. Alanine and proline were also elevated in spinal fluid. Urinary pyruvate and α-ketoglutarate were increased. The following causes of organic acidosis were excluded: liver glycogen disease, fructose diphosphatase deficiency, methylmalonic acidemia, propionic acidemia, isovaleric acidemia, butyric and caproic acid disease and β-methylcrotonylglycinuria. After infusion of U-14 C alanine into one infant, the label was measured in glucose, lactate and expired CO2 in approximately normal adult proportions, suygesting that gluconeogenesis pathways were intact. Normal activity of phosphoenolpyruvate carboxykinase was measured in fibroblasts. The biochemical abnormalities were not influenced by pharmacological doses of biotin, thiamine or prednisone. Siblings 1 and 2 died at 4 months of age. It is postulated that these siblinas had an inherited defect in pyruvate metabolism, possibly at the level of the pyruvate dehydrogenase complex.
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