atypical phenylketonuria
atypical phenylketonuria
(1) Dihydropteridine reductase deficiency, MIM 261630; phenylketonuria due to dihydropteridine reductase deficiency.(2) Hyperphenylalaninemia due to impaired tetrahydrobiopterin (BH4) biosynthesis, MIM 261640.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.