Maternal Phenylketonuria (PKU) in the Moravian Region

Overview

The aim of the authors was to present a survey on maternal PKU in the Moravian region. The group consisted of 17 mothers at the age of 19 to 31 years, who gave birth to 25 live children. Two mothers suffered from atypical PKU with phenylalanine (Phe) levels between 10–20 mg/dl of blood, while their nutrition was not limited. Fifteen mothers were treated for classical PKU. High Phe levels in the blood of mothers represented genetic indications for premature end of the pregnancy. High Phe level in the blood of mothers was associated with the occurrence of a typical syndrome: facial dysmorphia (6], microcephaly (4), psychomotor retardation (1), below-average intelligence (3), ADHD syndrome (5), and low birth weight (2). The authors did not encounter the occurrence of inborn heart defect. One child was born with a superfluous phalanx of the 5th finger one child with ureter dilatation. The poor outcome of pregnancy depended on a late beginning of low-protein diet in the mother and its poor observation, associated with a high level of Phe in blood, low social-economic status and lower IQ of the mother. The best results were reached in collaboration with an experience metabolism team and a gynecologist for the care of the mother with PKU.

Key words:
maternal PKU, syndrome, phenylalanine (Phe)