Linked Life Data

3454352

Source:http://linkedlifedata.com/resource/pubmed/id/3454352

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5-6
pubmed:dateCreated
1988-9-19
pubmed:abstractText
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.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0018-022X
pubmed:author
pubmed:issnType
Print
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
463-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
[Embryofetopathy caused by postnatally detected maternal phenylketonuria].
pubmed:affiliation
Universitätskinderklinik, Freiburg i. Br., BRD.
pubmed:publicationType
Journal Article, English Abstract, Case Reports