title: [Embryofetopathy caused by postnatally detected maternal phenylketonuria].
abstract: A case of a now 10-month-old female infant is reported, who presented at birth with microcephalus, growth retardation, dystrophia, facial dysplasia and cardiac defect. Etiologically a classical phenylketonuria of the mother with very high levels of serum phenylalanine (51 and 41 mg/dl, respectively), which was not known until then, was diagnosed already after her confinement. The mother, aged 26, originates from Roumania. She had never been treated by any phenylalanine-limited diet. Psychological testing revealed a severely reduced intelligence (IQ = 63). The child, having normal levels of serum phenylalanine, presented with mild statomotor retardation at the age of ten months. Even in countries with a general neonatal screening program, a hitherto undiagnosed maternal phenylketonuria has to be considered within the differential diagnosis of a dystrophic microcephalic newborn, beside more common causes like the fetal alcohol syndrome.
authors.affiliation: Universitätskinderklinik, Freiburg i. Br., BRD.
authors.forename: H
authors.initials: H
authors.lastname: Bode
authors.forename: R
authors.initials: R
authors.lastname: Urbanek
authors.forename: D
authors.initials: D
authors.lastname: Henglein
authors.forename: H
authors.initials: H
authors.lastname: Niederhoff
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010649:Phenylalanine / Q000652:urine; D010661:Phenylketonurias / Q000235:genetics* / Q000652:urine; D011247:Pregnancy
chemical_list: D010649:Phenylalanine
vernacular_title: Embryofetopathie infolge einer postnatal erkannten maternalen Phenylketonurie.