ArticleEuropean journal of pediatrics2008
Outcome of three cases of untreated maternal glutaric aciduria type I.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 44 citations in OpenAlex.
- Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report.Neurogenetics · 2026Article
- Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.Molecular genetics and metabolism reports · 2026Article
- Efficacy and organ protective effects of continuous renal replacement therapy in children with organic acidemia complicated by decompensated acidosis: a retrospective study in PICU.Orphanet journal of rare diseases · 2025Article
- Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.Turkish archives of pediatrics · 2023Article
- Review
- Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.Orphanet journal of rare diseases · 2021Article
- Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
- Impact of pregnancy on inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.JIMD reports · 2018Article
- Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.Orphanet journal of rare diseases · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.The neuroradiology journal · 2013Article
- Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening.Acta crystallographica. Section F, Structural biology and crystallization communications · 2011Article
- Diagnosis and management of glutaric aciduria type I--revised recommendations.Journal of inherited metabolic disease · 2011Review
- Four years of expanded newborn screening in Portugal with tandem mass spectrometry.Journal of inherited metabolic disease · 2010Article
- False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.Journal of inherited metabolic disease · 2009Article
- Maternal glutaric acidemia, type I identified by newborn screening.Molecular genetics and metabolism · 2008Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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