Child Neurology: Neonatal Management of Tyrosine Hydroxylase Deficiency: How Early Is Early Enough?

Abstract

Tyrosine hydroxylase deficiency is a rare, treatable, autosomal recessive disorder of monoamine neurotransmitter biosynthesis that typically presents in infancy or early childhood. Despite potential benefits of presymptomatic treatment with levodopa/carbidopa, prenatal or neonatal diagnosis remains extremely rare. We report 2 preterm neonates from unrelated families, both with known family history of tyrosine hydroxylase deficiency. After early diagnosis, levodopa/carbidopa therapy was initiated during the neonatal period. This proactive approach proved feasible and well tolerated, leading to early normalization of subtle motor abnormalities. These cases highlight the importance of early genetic diagnosis of this rare condition and the feasibility of levodopa/carbidopa treatment in neonates.