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Differential Diagnosis: Malonyl-CoA decarboxylase deficiency (malonic aciduria).

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.

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

• Contact family to inform them of the newborn screening result and ascertain clinical status (poor feeding, vomiting, lethargy).
• Consultation/referral with a pediatric metabolic specialist.
• Immediately evaluate infant; check blood glucose and urine ketones and, if elevated or infant is ill, initiate treatment as recommended by metabolic specialist and transport IMMEDIATELY to tertiary center with metabolic specialist.
• Initiate timely confirmatory/diagnostic testing as recommended by consultant.
• Educate family about signs, symptoms and need for urgent treatment of metabolic acidosis and hypoglycemia.
• Report findings to newborn screening program.

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.