Abstract
Primary lactic acidemias represent a family of disorders of pyruvate metabolism or defects in the respiratory chain. However, lactic acidosis may also be seen in metabolic disorders such as organic acidemias, urea cycle defects, and fatty acid oxidation defects, which can be easily excluded by serum ammonia estimation, urinary organic acid estimation, and quantification of plasma amino acids. The classical presentation of a patient with primary lactic acidemia is growth retardation, ataxia, stroke, and increased lactic acid levels in the blood and cerebrospinal fluid. Patients may also present with cerebral edema, acute rhabdomyolysis, cardiac arrhythmias, cardiomyopathy, coma, and neurodegeneration. We present three cases of lactic acidemia with varied presentation. The first child presented at 5 years with recurrent hematemesis with hypoglycemia. The second child presented at 11 years of age with recurrent episodes of unconsciousness. The third child presented at one and a half months with convulsions.
Keywords
lactic acidosis - children - presentation
