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In catabolic stress in MMA due to acute illness (e.g. perinatal stress, infection, injury, surgery with endogenous protein breakdown) or when excessive protein is ingested, there is an increase in the offending amino acids (isoleucine, valine, methionine and threonine) as well as in propionic acid, leading to an accumulation of methylmalonic acid with the central emergency biochemical features of profound metabolic acidosis (due to ketone body production and organic acid accumulation), hypoglycemia, and hyperammonemia .
Hence, the constellation of laboratory findings in MMA is the following:
Metabolic acidosis with anion gap
Ketonuria
Hypoglycemia
Hyperammonemia
Hyperglycinemia
The ketoacidosis, hyperammonemia and hypoglycemia can explain the lethargy and obtundation that are sometimes seen in MMA patients during an acute crisis. The ketoacidosis also produces vomiting.
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