351. Outcome of three cases of untreated maternal glutaric aciduria type I
- Author
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Isabel Soares, Ana Marcão, Laura Vilarinho, Hugo Alexandre Oliveira Rocha, Clara Barbot, Esmeralda Martins, Eurico Gaspar, Luísa Diogo, Paula Garcia, Margarida Almeida, and Catarina Vaz
- Subjects
Metabolic state ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Time Factors ,media_common.quotation_subject ,Diagnosis, Differential ,Glutarates ,Dna genetics ,Medicine ,Humans ,media_common ,Pregnancy ,Newborn screening ,Daughter ,Glutaryl-CoA Dehydrogenase ,business.industry ,Glutaric aciduria ,Follow up studies ,Infant, Newborn ,Brain ,DNA ,medicine.disease ,Magnetic Resonance Imaging ,Arachnoid Cysts ,Pediatrics, Perinatology and Child Health ,Mutation ,Gestation ,Female ,business ,Metabolism, Inborn Errors ,Follow-Up Studies - 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 long-term follow up will determine the true impact of GA I in such children.
- Published
- 2007