ArticleJournal of inherited metabolic disease2008
Glutaric aciduria type I: outcome following detection by newborn screening.
Article in Journal of inherited metabolic disease, 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, 60 citations in OpenAlex.
- Enteric bacterial infection stimulates remodelling of bile metabolites to promote intestinal homeostasis.Nature microbiology · 2024Article
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.JIMD reports · 2022Article
- A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.Clinical case reports · 2021Article
- Article
- Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.Frontiers in genetics · 2021Article
- Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.Neurogenetics · 2020Article
- What are the information needs of parents caring for a child with Glutaric aciduria type 1?BMC pediatrics · 2019Article
- Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.Metabolic brain disease · 2017Article
- Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.Metabolic brain disease · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- Impact of age at onset and newborn screening on outcome in organic acidurias.Journal of inherited metabolic disease · 2016Article
- Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry.Molecular genetics and metabolism reports · 2015Article
- Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.Journal of inherited metabolic disease · 2014Article
- Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.Orphanet journal of rare diseases · 2013Article
- Parental views on informed consent for expanded newborn screening.Health expectations : an international journal of public participation in health care and health policy · 2013Article
- Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.The neuroradiology journal · 2013Article
- An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.Journal of inherited metabolic disease · 2012Article
- Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.Medical science monitor : international medical journal of experimental and clinical research · 2011Article
- Diagnosis and management of glutaric aciduria type I--revised recommendations.Journal of inherited metabolic disease · 2011Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutaric aciduria type I (GA I), a cerebral organic acidaemia with the potential for severe neurological consequences, can now be detected by tandem mass spectrometry newborn screening. Early detection with implementation of careful management strategies appears to lessen the likelihood of neurological damage. We assessed the outcome in all 10 GA I patients detected in New South Wales during the last decade. Three patients were detected clinically and 7 by newborn screening. Diagnosis was confirmed by detection of significantly elevated urinary 3-hydroxybutyrate and glutarate in urine, isolated elevation of glutarylcarnitine in plasma, typical clinical and MRI findings in several, and mutation analysis or enzyme analysis on cultured skin fibroblasts in 4 cases. The birth frequency was 1:90,000. Following diagnosis, treatment was initiated in all children with oral carnitine (100 mg/kg per day) and a low-protein diet supplemented with a lysine-free, low-tryptophan amino acid formula. Disability was assessed in fields of motor, cognitive and speech development and scored according to Kyllerman. Clinically diagnosed patients were all symptomatic, with severity scores (out of 9) of 3, 5 and 9. Six of seven patients detected by newborn screening are asymptomatic, 4 being aged 2-6 years. One patient had a severe decompensation at 7 months, despite full management advice and treatment, and later died. Our data support previous findings that early diagnosis reduces neurological complications, but show that even with early diagnosis and careful management severe complications may ensue in some.
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