Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020 [PDF]
Molecular Genetics and Metabolism Reports, 2020 Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment.
A. Mhanni +5 more
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Acta Médica PortuguesaGlutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces.
Lúcia Marques +4 more
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Long-Term Outcomes of GPi Deep Brain Stimulation in a Child with Glutaric Aciduria Type 1 (GA1). [PDF]
Mov Disord Clin PractGlutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that is inherited in an autosomal recessive manner. It is caused by a de fi ciency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH), which converts glutaryl-CoA to crotonyl-CoA ...
Chacón A +6 more
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Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1. [PDF]
ACS Chem BiolGlutaric Aciduria Type 1 (GA1) is a serious inborn error of metabolism with no pharmacological treatments. A novel strategy to treat this disease is to divert the toxic biochemical intermediates to less toxic or nontoxic metabolites.
Wu R +11 more
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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis. [PDF]
Genet Med, 2021 Purpose Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated.
Boy N +5 more
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Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma [PDF]
JIMD Reports, 2021 A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity.
Jason Foran +4 more
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Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients. [PDF]
Eur J Pediatr, 2016 Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of children presenting with SDHs.
Vester ME +5 more
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Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Mimicking Glutaric Aciduria Type 1: A Case Report [PDF]
Frontiers in Neurology, 2020 Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an immune-mediated disease that induces a wide spectrum of symptoms, especially in toddlers.
Daniel Almeida do Valle +10 more
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Subdural Hematoma and Glutaric Aciduria Type 1
Pediatric Neurology Briefs, 2001 An 8-week-old male infant diagnosed with bilateral subdural hematoma following a reported fall and head injury was found to have glutaric aciduria type 1 and was subsequently treated by dietary modification at Addenbrooke’s Hospital, Cambridge, UK.
J Gordon Millichap
doaj +3 more sources
Exploring genotype–phenotype correlations in glutaric aciduria type 1
Journal of Inherited Metabolic Disease, 2023 AbstractGlutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients, together with unpublished cases, to provide an up‐to‐date genetic landscape of GCDH pathogenic variants and ...
Schuurmans, I.M.E. +9 more
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