Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT
Hyperphenylalaninemia, Non-Pku Mild
intrahepatic cholestasis of pregnancy +
Maternal Death
Maternal Phenylketonuria
A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)