Linked Life Data

19898791

Source:http://linkedlifedata.com/resource/pubmed/id/19898791

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
19-20
pubmed:dateCreated
2009-11-9
pubmed:abstractText
We report on a 21-year-old woman with classic phenylketonuria, who presented at our outpatient clinic at week 14 of pregnancy. Despite intensive preconceptional counselling about the risk of raised Phenylalanine (Phe) levels for the offspring and nutritional consultations about the necessity to be on a Phe-restricted diet she had elevated blood Phe concentrations. Phe level could be lowered to the recommended range during a stay as an inpatient, but the patient was not able to maintain the recommended levels due to non-compliance. The patient delivered a newborn with classic maternal PKU syndrome (microcephaly, brachygnathia, congenital heart defect and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet. With more PKU patients reaching the childbearing age, intensive preconception counselling about maternal PKU syndrome is of pivotal importance for the women. However, a major factor in preventing Phe embryopathy is patient compliance in keeping the diet, which was insufficient in the case presented.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1563-258X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
159
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
507-10
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
A case of maternal PKU syndrome despite intensive patient counseling.
pubmed:affiliation
Department of Medicine, University Hospital, Leipzig, Germany. Susette.Unger@medizin.uni-leipzig.de
pubmed:publicationType
Journal Article, Case Reports