ReviewJournal of inherited metabolic disease1998
Diagnosis and management of glutaric aciduria type I.
Review in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 123 citations in OpenAlex.
- Carnitine supplementation for inborn errors of metabolism.The Cochrane database of systematic reviews · 2012Pooled it
- Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH.Fundamental research · 2022Article
- Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1.Indian journal of pediatrics · 2022Article
- Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.Metabolic brain disease · 2021Article
- The use ofAmerican journal of nuclear medicine and molecular imaging · 2021Article
- Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.Neurogenetics · 2020Article
- Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase.JIMD reports · 2019Article
- Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.Metabolic brain disease · 2018Article
- Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.Journal of pediatric genetics · 2017Article
- Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.Clinical case reports · 2017Article
- Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.Metabolic brain disease · 2017Article
- Metabolic products in urine of preterm infants characterized via gas chromatography-mass spectrometry.International journal of clinical and experimental medicine · 2015Article
- Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I.Acta neuropathologica communications · 2014Article
- A treatable neurometabolic disorder: glutaric aciduria type 1.Case reports in pediatrics · 2014Article
- Cyclic vomiting syndrome masking a fatal metabolic disease.European journal of pediatrics · 2013Article
- Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.Human genetics · 2012Article
- Role of carnitine in disease.Nutrition & metabolism · 2010Article
- Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.The Journal of clinical investigation · 2007Article
- Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 2004Review
- Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.European journal of pediatrics · 2003Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs between 6 and 18 months of age and is probably linked to changes in metabolic demand caused by normal maturational changes and superimposed catabolic stress. Recognition of this biochemical disorder before the brain has been injured is essential to outcome. Diagnosis depends upon the recognition of relatively non-specific physical findings such as hypotonia, irritability and macrocephaly, and on performance of urine organic acid quantification by gas chromatography--mass spectrometry or selective searches of urine or blood specimens by tandem mass spectrometry for glutarylcarnitine. The diagnosis may also be suggested by characteristic findings on neuroimaging. In selected patients diagnosis can only be reached by enzyme assay. Specific current management by the authors of this paper includes pharmacological doses of L-carnitine, as well as dietary protein restriction. Metabolic decompensation must be treated aggressively to avoid permanent brain damage. Multicentre studies are needed to establish best methods of diagnosis and optimal therapy of this disorder.
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