Catalog

Fatal infantile lactic acidosis with methylmalonic aciduria

No MMS code

Link to WHO Definition

Fatal infantile lactic acidosis with methylmalonic aciduria – http://id.who.int/icd/entity/1314742423

Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of anyone of the multiple enzymatic steps of pyruvate utilization (pyruvate translocase, pyruvate dehydrogenase, Krebs cycle enzymes, respiratory chain complexes etc.) induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects (of which it may be the presenting symptom), or to acute metabolic crisis associated with less severe defects (of which it represents a life-threatening complication).