Discussion
Most organic acidemias present in the newborn period as an
acute episode of fulminant metabolic acidosis which may lead to
coma and death if not treated adequately. Beyond the neonatal
period, patients often present with developmental delay, with or
without a history of recurrent acidotic episodes during catabolic
stress. Typical laboratory findings during metabolic crises are
metabolic acidosis, hyperammonemia, ketonuria, hypo- or
hyperglycemia, anemia, thrombocytopenia, neutropenia, or
pancytopenia. Untreated episodes of metabolic crises may
lead to death or severe neurological sequelae