[Chronic infantile lactate acidosis].
A baby with congenital lactic acidosis is described. The blood levels of lactic acid and alanine as well as the excretion of these compounds in the urine were largely elevated. Clinically the illness presented with vomiting, poor feeding, areflexia, muscular hypotonia and hepatomegaly. The baby died at the age of three months. The pyruvate dehydrogenase complex in cultured fibroblasts showed an activity of 14% of normal values.
D000138:Acidosis / Q000151:congenital*; D000409:Alanine / Q000032:analysis; D000596:Amino Acids / Q000032:analysis; D000855:Anorexia / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D007773:Lactates / Q000032:analysis*; D008297:Male; D009129:Muscle Tonus; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism*; D014839:Vomiting / Q000209:etiology
D000596:Amino Acids; D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex; D000409:Alanine
Chronische Laktatazidose bei einem Säugling.