ABSTRACT
Overwhelming neonatal illness with metabolic acidosis, acrid odor, hypoketotic hypoglycemia, and hyperammonemia; dysmorphic features; polycystic kidneys; massive urinary excretion of lactic and glutaric acids, and increased concentrations of many other organic acids, including ethylmalonic acid, butyric acid, methylbutyric acid, isobutyric and isovaleric acids, and deficiency of electron transfer flavoprotein (ETF) or its dehydrogenase (ETF-QO). Later onset, milder variants referred to as ‘ethylmalonic-adipic aciduria’, may first present in the neonatal period or adulthood with episodic illness characterized by vomiting, hypoglycemia, and/or lipid storage myopathy.
