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-author:AlmeidaMargaridaM,
pubmed-author:BarbotClaraC,
pubmed-author:DiogoLuísaL,
pubmed-author:GarciaPaulaP,
pubmed-author:GasparEuricoE,
pubmed-author:MarcãoAnaA,
pubmed-author:MartinsEsmeraldaE,
pubmed-author:RochaHugoH,
pubmed-author:SoaresIsabelI,
pubmed-author:VazCatarinaC,
pubmed-author:VilarinhoLauraL
|
pubmed:issnType |
Print
|
pubmed:volume |
167
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
569-73
|
pubmed:meshHeading |
pubmed-meshheading:17661081-Adult,
pubmed-meshheading:17661081-Arachnoid Cysts,
pubmed-meshheading:17661081-Brain,
pubmed-meshheading:17661081-DNA,
pubmed-meshheading:17661081-Diagnosis, Differential,
pubmed-meshheading:17661081-Female,
pubmed-meshheading:17661081-Follow-Up Studies,
pubmed-meshheading:17661081-Glutarates,
pubmed-meshheading:17661081-Glutaryl-CoA Dehydrogenase,
pubmed-meshheading:17661081-Humans,
pubmed-meshheading:17661081-Infant, Newborn,
pubmed-meshheading:17661081-Magnetic Resonance Imaging,
pubmed-meshheading:17661081-Male,
pubmed-meshheading:17661081-Metabolism, Inborn Errors,
pubmed-meshheading:17661081-Mutation,
pubmed-meshheading:17661081-Time Factors
|
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
|