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Maternal non-phenylketonuric mild hyperphenylalaninemia
H L Levy1, S E Waisbren, D Lobbregt
1Children's Hospital, Boston, MA 02115, USA.
European Journal of Pediatrics
|July 1, 1996
Summary
Maternal mild hyperphenylalaninemia (MHP) with phenylalanine levels over 400 mumol/l is linked to lower birth measurements and slightly reduced offspring IQ. Dietary intervention may be beneficial for pregnant individuals with MHP.
Area of Science:
- Biochemistry
- Genetics
- Maternal-Fetal Medicine
Background:
- Maternal phenylketonuria (PKU) causes severe birth defects, but the impact of maternal non-PKU mild hyperphenylalaninemia (MHP) on offspring is less understood.
- The long-term consequences of MHP during pregnancy remain unclear, necessitating further investigation into its effects on fetal development and offspring health.
Purpose of the Study:
- To investigate the potential long-term consequences of maternal mild hyperphenylalaninemia (MHP) on offspring development.
- To determine if elevated phenylalanine (Phe) levels in mothers with MHP are associated with adverse birth outcomes or developmental deficits in their children.
Main Methods:
- An international survey collected data from 86 mothers with MHP (blood Phe 150-720 mumol/l) regarding 219 untreated pregnancies and 173 offspring.
- Offspring outcomes including spontaneous fetal loss, congenital anomalies, birth measurements (length, head circumference), and IQ were analyzed in relation to maternal Phe levels.
Main Results:
- Spontaneous fetal loss and congenital anomalies were not significantly increased in pregnancies affected by MHP.
- Offspring from mothers with maternal Phe levels > 400 mumol/l showed significantly lower median Z-scores for birth length and head circumference compared to those with Phe < 400 mumol/l.
- Median offspring IQ was 100 for maternal Phe > 400 mumol/l, versus 108 for maternal Phe < 400 mumol/l, indicating a slight but significant reduction in cognitive function.
Conclusions:
- Maternal blood Phe levels exceeding 400 mumol/l in MHP are associated with reduced birth measurements and a slight decrease in offspring IQ.
- Dietary intervention to maintain maternal Phe levels below 400 mumol/l may be indicated for pregnant individuals with MHP and higher blood Phe concentrations.
- Further data from ongoing studies, such as the Maternal PKU Collaborative Study, are expected to corroborate these findings.