NUTRITION SUPPORT FOR GLUTARIC ACIDEMIA TYPE-I

Glutaric acidemia type I is a rare, autosomal recessive, inborn error of lysine and tryptophan metabolism. This disorder is caused by a defe ct in the mitochondrial enzyme glutaryl-coenzyme A dehydrogenase, resu lting in permanent or episodic elevations of glutaric acid. Despite cl inical variability, untreated children often experience progressive ne urologic damage that frequently leads to death. Recent evidence sugges ts that a lysine- and tryptophan-restricted diet and pharmacologic the rapy with oral riboflavin and L-carnitine may arrest the neurologic de terioration. Several cases of normal growth and development have been reported in children diagnosed and treated before neurologic insult. I n this article, we review previously published experience with dietary and pharmacologic therapy and provide guidelines for nutrition suppor t based on our experience of treating four affected children. We sugge st that dietary restriction of lysine and tryptophan is a safe and pot entially effective therapy for individuals with glutaric acidemia type I.