Maternal phenylketonuria

MONDO:0016366

Maternal 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, 3 tagged with Maternal phenylketonuria itself.

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Where it sits in the disease tree

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↑ Phenylketonuria (60)

Including sub-types (3) Tagged with Maternal phenylketonuria (3)

Trials to join now! 2 Completed 1

Tiny study tests special diet drink for Moms-to-Be with PKU

Knowledge-focused Completed

This completed study followed 12 women with PKU who chose to use PKU Sphere, a special low-protein medical food, before and during pregnancy. Researchers tracked their blood amino acid levels, diet adherence, and pregnancy outcomes. The goal was to see if the product helps mainta…

Sponsor: Vitaflo International, Ltd • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:00 UTC

Maternal phenylketonuria

Where it sits in the disease tree

Tiny study tests special diet drink for Moms-to-Be with PKU