Condition Description: Malonic aciduria is caused by deficiency of malonyl-CoA decarboxylase which converts intramitochondrial malonyl-CoA to acetyl-CoA. This results in an increase in malonic acid and its derivatives.
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Plasma acylcarnitine analysis will confirm increased C3-DC and urine organic acid analysis will show increased malonic acid.
Malonic aciduria may present acutely in the neonate. The presentation can include hypoglycemia, lactic acidosis, and marked lethargy. More commonly, malonic aciduria presents during infancy or later childhood with developmental delay, seizures, vomiting, failure to thrive, hypotonia, hypoglycemia, metabolic acidosis, and cardiomyopathy. Treatment may be beneficial.