Phenotypic and Genotypic Characteristics of Adult‐Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review [PDF]
Brain and BehaviorIntroduction Glutaric aciduria Type 1 (GA‐1) is an autosomal recessive inherited disorder caused by GCDH variations. GA‐1 is a rare disease that typically manifests in infancy and early childhood, with adult‐onset cases being even rarer.
Luhua Wei +10 more
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Pediatric glutaric aciduria type 1: 14 cases, diagnosis and management
Annals of Indian Academy of Neurology, 2021 Introduction: Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase.
Leema P Cornelius +2 more
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Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report [PDF]
BMC Pediatrics, 2021 Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska +5 more
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Anaesthesia Management of a Pregnant Woman with Glutaric Aciduria Type 1 Undergoing Cesarean Section [PDF]
Turkish Journal of Anaesthesiology and ReanimationGlutaric aciduria type 1 (GA-1) presents unique challenges for anaesthetists. This case report discusses anaesthesia management in a pregnant woman with GA-1 undergoing cesarean delivery.
Yağmur Demirel +4 more
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Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1 [PDF]
International Journal of Neonatal ScreeningGlutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in newborn screening (NBS) programs worldwide. Because of the broad biochemical spectrum of individuals with GA1 and the lack of reliable second-tier strategies ...
Elaine Zaunseder +9 more
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A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 [PDF]
Case Reports in Pediatrics, 2014 Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid.
S. Pusti, N. Das, K. Nayek, S. Biswas
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Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1 [PDF]
JIMD ReportsGlutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG).
Denis Cyr +3 more
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Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients [PDF]
JIMD Reports, 2022 Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to strict dietary restriction, in particular a diet low in lysine, carnitine supplementation and ...
Lydia Healy +9 more
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Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China [PDF]
Frontiers in Genetics, 2021 PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland ...
Huishu E. +8 more
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What are the information needs of parents caring for a child with Glutaric aciduria type 1? [PDF]
BMC Pediatrics, 2019 Background Newborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children.
Hilary Piercy +3 more
doaj +5 more sources