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

27 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Phenylketonuria (48) Inborn errors of metabolism (42) Human disease (14) Autosomal recessive disease (4) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (0)

Trials to join now! 15 Not yet recruiting 3 Not yet finished but already full! 3 Completed 6

Maternal phenylketonuria

Broader categories

New vitamin supplements aim to make life easier for kids with rare metabolic disorders

Massive genetic study aims to unlock secrets of rare metabolic diseases

Study on COVID-19 and metabolic disorders pulled before it began