Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.
Acta Paediatr
; 85(8): 943-6, 1996 Aug.
Article
en En
| MEDLINE
| ID: mdl-8863876
ABSTRACT
We attempted to evaluate the role of maternal hyperphenylalaninaemia (HPA) as an isolated cause of mental retardation and microcephaly in children. This transversal study observed the plasma phenylalanine from mothers of 161 children with mental retardation and/or microcephaly of unknown origin. In this sample, we found two women with previously undiagnosed HPA, a frequency (2/161) higher than expected for our general population (112 500) (p < 0.001). We concluded that the plasma phenylalanine levels should be determined during preconceptional evaluation of every woman of reproductive age that already has had a child affected either by mental retardation or microcephaly of unknown cause. It is particularly significant where women currently having their pregnancies have not been screened for phenylketonuria as newborns, as happens in most developing countries.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenilalanina
/
Complicaciones Hematológicas del Embarazo
/
Intercambio Materno-Fetal
/
Discapacidad Intelectual
/
Microcefalia
Tipo de estudio:
Observational_studies
/
Prevalence_studies
Límite:
Adult
/
Female
/
Humans
/
Middle aged
/
Pregnancy
Idioma:
En
Revista:
Acta Paediatr
Año:
1996
Tipo del documento:
Article
País de afiliación:
Brasil