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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer-Verlag

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1432-1076

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Outcome of three cases of untreated maternal gluta

Authors: Paula Garcia Esmeralda Martins Luísa Diogo Hugo Rocha Ana Marcão Eurico Gaspar Margarida Almeida Catarina Vaz Isabel Soares Clara Barbot Laura Vilarinho
Publish Date: 2007/07/28
Volume: 167, Issue: 5, Pages: 569-573
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Abstract

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 longterm follow up will determine the true impact of GA I in such children

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