Maternal phenylketonuria
MONDO:0016366Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
Also known as: hyperphenylalaninemic embryopathy, maternal PKU, maternal hyperphenylalaninemia, phenylketonuric embryopathy
3 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Camp curriculum aims to boost pregnancy outcomes in rare metabolic disorders
Knowledge-focused Recruiting nowThis study looks at whether a special camp that teaches teens and young women with PKU or MSUD about their condition and nutrition can improve their pregnancy outcomes and quality of life. Researchers will compare the results of women who attended the camp to those who did not. T…
Phase: NA • Sponsor: Emory University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC
-
New study tracks PKU drug palynziq in pregnancy: what are the risks?
Knowledge-focused Recruiting nowThis study follows 50 pregnant women with phenylketonuria (PKU) who have taken the drug Palynziq (pegvaliase) around the time of pregnancy or while breastfeeding. Researchers will track pregnancy outcomes and infant health, including birth defects and development. The goal is to …
Sponsor: BioMarin Pharmaceutical • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC