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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.

Cognitive impairment

Abnormality in the process of thought including the ability to process information.

Total: 1

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PMID (PMCID)
15320931	MIXED_SAMPLE	Child
	Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.
	Shaw-Smith C, Hogg SL, Reading R, Calvin J, Trump D. Child Care Health Dev. 2004;30(5):551-5.
	We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU.