title: Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.
abstract: A 9-year old boy with severe mental and growth retardation and diffuse neurologic damage had minimal elevation of blood pyruvate (0.21 mM) and lactate (2.1 mM) on a normal diet but developed life-threatening lactic acidosis (pH 7.14; lactate 21.0 MM) on a diet containing 65% carbohydrate and 15% fat. Subsequently, blood pyruvate levels rose significantly higher than in 16 control subjects during a glucose tolerance test whereas the glucose levels were normal. Two sisters died with spontaneous lactic acidosis and an otherwise similar clinical course...
mesh_terms: D000138:Acidosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000596:Amino Acids / Q000097:blood; D002490:Central Nervous System / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004040:Dietary Carbohydrates / Q000009:adverse effects*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005951:Glucose Tolerance Test; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007773:Lactates / Q000097:blood* / Q000652:urine; D008297:Male; D009186:Myelin Sheath / Q000473:pathology; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D011773:Pyruvates / Q000097:blood
chemical_list: D000596:Amino Acids; D004040:Dietary Carbohydrates; D007773:Lactates; D011773:Pyruvates