Inborn errors associated with defective pyruvate metabolism or failings of the respiratory chain may lead to primary lactic acidosis presenting as severe metabolic acidosis in infancy. In adults, lactic acidosis may occur secondary to cardiopulmonary failure, sepsis, trauma, thiamine deficiency, pharmacological or toxic sequelae, oncologic pathology and various acquired and congenital diseases.
Diagnosis of inborn error of metabolism in infants
|Sample & container required||Fluoride oxalate (grey top)|
|Sample volume||0.5 mL|
|Turnaround time||1 day|