Preferred Label : Fatal infantile lactic acidosis with methylmalonic aciduria;
ICD-11 definition : 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).;
ICD-11 synonym : Congenital lactic acidosis;
Origin ID : 1314742423;
Currated CISMeF NLP mapping
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).
