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Glutaric aciduria type 1 (GA1) is a rare autosomal recessive neurometabolic disorder caused by an inborn error of amino acid metabolism (1). Deficiency of glutaryl coenzyme A dehydrogenase allows accumulation of certain organic acids (Fig 1A), which causes progressive neurotoxicity and motor symptoms (2).
Oct 19, 2023
Oct 20, 2023 · Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder. It results from an enzyme deficiency that prevents the body from breaking down some amino ...
Nov 20, 2023 · Glutaric Aciduria type I (GA1) is a rare neurometabolic disorder caused by mutations in the GDCH gene encoding for glutaryl-CoA dehydrogenase (GCDH) in the ...
Nov 26, 2023 · Glutaric Aciduria Type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-CoA dehydrogenase ...
Aug 2, 2024 · A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased ...
£40.00
Nov 22, 2023 · Hydroxyglutaric Aciduria or L-2-HGA is an autosomal recessive disorder that affects the central nervous system of the dog.
Sep 20, 2024 · What is argininosuccinic aciduria. Argininosuccinic aciduria is an inherited (genetic) condition that prevents the body from removing ammonia properly.
Jun 26, 2024 · INTRODUCTION. Organic acidemias, also known as organic acidurias, are a class of inborn errors of metabolism characterized by accumulation of abnormal (and ...
Dec 15, 2023 · D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, ...
Nov 2, 2023 · Glutaric aciduria type 1 (GA-1) is a rare autosomal recessive neurometabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA ...
