Linked Life Data

17661081

Source:http://linkedlifedata.com/resource/pubmed/id/17661081

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-3-19
pubmed:abstractText
We report, for the first time, the outcome of three children born to two women with untreated glutaric aciduria type I (GA I). Isolated hypocarnitinemia in neonatal screening in one baby allowed the identification of the disease in his mother, who was undiagnosed so far and had had a previous daughter. The other baby was born to an already diagnosed mother who was not treated; newborn screening in the child reflected the metabolic state of the mother. Biochemical abnormalities returned to normal within one week. At the age of 4 months, neuroimaging showed Sylvian enlargement in both infants and bilateral temporal arachnoid cysts in one. Physical and neurological developments were normal for the three patients at ages 2 and 5 years. We conclude that long-term follow up will determine the true impact of GA I in such children.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
167
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
569-73
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Outcome of three cases of untreated maternal glutaric aciduria type I.
pubmed:affiliation
Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000 Coimbra, Portugal.
pubmed:publicationType
Journal Article, Case Reports