Isovaleric Acidemia: Use of Glycine Therapy in Neonates

Abstract

ISOVALERIC acidemia is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-coenzyme A dehydrogenase.^{1 , 2} Affected patients are usually seen during the neonatal period with a syndrome of vomiting and lethargy progressing to coma, pancytopenia and ketoacidosis. The isovaleric acid imparts an offensive odor to body fluids; hence, the disease is often called the "sweaty-feet syndrome." The morbidity and mortality of isovaleric acidemia in neonates is high: of the 19 infants described through 1975, 10 died during the first month of life, and most survivors suffered brain damage.^{3 , 4} Krieger and Tanaka have demonstrated that the administration of glycine . . .