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.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.


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PMID (PMCID)
19485248
 FEMALE Infant, Newborn
[The maternal phenylketonuria syndrom--still current problem].
Didycz B, Domagala L, Pietrzyk JJ.
Przegl Lek. 2009;66(1-2):4-10.
Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.