Results 61 to 70 of about 4,483 (224)
Journal of Inborn Errors of Metabolism and Screening, 2021 Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA).
Carolina Arias +9 more
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Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
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Is it time to start to consider treating the liver in glutaric aciduria type 1?
Journal of Inherited Metabolic Disease, 2023 Glutaric aciduria type 1 (GA1) is one of the classic organic acidurias. It is caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). Since its first description by Dr.
S. Houten, C. Coughlin
semanticscholar +1 more source
L-2-hydroxyglutaric aciduria: A case report [PDF]
, 2014 Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma.
Jović Nebojša J. +2 more
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Glutaric aciduria type I: A treatable neurometabolic disorder
Annals of Indian Academy of Neurology, 2012 Background and Objectives: Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India.
Mahesh Kamate +4 more
doaj +1 more source
Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins. [PDF]
PLoS ONE, 2014 Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the
Jessica Schmiesing +4 more
doaj +1 more source
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier [PDF]
, 2014 L-2 hydroxyglutaric aciduria is an autosomal recessive error of metabolism that manifests as an encephalopathy. The most common presenting signs are seizures, tremors, ataxia and/ or dementia.
Henriette van der Zwan +3 more
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The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Glutaric aciduria type 1: a review of phenotypic and genetic characteristics
Journal of Biochemical and Clinical Genetics, 2019 Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity ...
Ali M AlAsmari +2 more
doaj +1 more source
Hallazgos neurorradiológicos de la Acidosis Glutárica tipo I [PDF]
, 2007 Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in
Garcia-de-Eulate, R. (Reyes) +4 more
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