Clinical characteristics and intervention in maternal phenylketonuria
10.3760/cma.j.issn.1673-4912.2016.05.003
- VernacularTitle:母源性苯丙酮尿症的临床特征与干预
- Author:
Xiyu HE
- Publication Type:Journal Article
- Keywords:
Maternal Hyperphenylalaninemia;
Phenylalanine;
Dysmorphism
- From:
Chinese Pediatric Emergency Medicine
2016;23(5):300-303
- CountryChina
- Language:Chinese
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Abstract:
Maternal phenylketonuria(MPKU) is a syndrome caused by high phenylalanine concentrations in serum of pregnant women with phenylketonuria.MPKU results in neonatal microcephaly,facial dysmorphism,congenital heart defects,mental retardation,intrauterine growth restriction,behavior and emotional problems.To control serum Phe level of pregnant phenylketonuria women and maintain Phe concentration between 120 to 360μmol/L will prevent offspring poor outcomes such as intellectual disabilities and microcephaly.Three level interventions are best ways in MPKU management.
