Maternal Phenylalanine Hydroxylase Deficiency Disease: A maternal condition which occurs in untreated or partially treated phenylketonuric females when they become pregnant. This may result in damage to the fetus, including microcephaly, mental retardation, congenital heart disease, intrauterine growth retardation, and craniofacial abnormalities. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

Synonym: pregnancy in phenylketonuria, maternal phenylketonuria, maternal pku.

Terms Related to Maternal Phenylalanine Hydroxylase Deficiency Disease:

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• Smith Lemli Opitz Syndrome

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• Type II Smith Lemli Opitz Syndrome

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