Maternal phenylketonuria

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.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

合計: 1

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PMID (PMCID)
27898272	FEMALE	Adult
	Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride.
	Yildiz Y, Dursun A, Tokatli A, Coskun T, Sivri S. Gynecol Endocrinol. 2017;33(1):19-20.
	Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome.