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.

Ventricular septal defect

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

Total: 1

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PMID (PMCID)
2328170	FEMALE	Infant
	Origin of the left coronary artery from the right pulmonary artery and ventricular septal defect in a child of a mother with raised plasma phenylalanine concentrations throughout pregnancy.
	Henglein D, Niederhoff H, Bode H. Br Heart J. 1990;63(3):180-2.
	Development retardation was caused by maternal phenylketonuria, which may also have been responsible for the development of the ventricular septal defect and the coronary anomaly.