Dystonia and Infantile Glutaric Acidemia
Pediatric Neurology Briefs, 1989 Glutaric acidemia, an autosomal recessively inherited disease caused by deficiency of glutaryl-CoA dehydrogenase, was manifested by acute dystonia in 3 infants reported from the Children's Hospital of Pittsburgh, Pennsylvania.
J Gordon Millichap
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A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I [PDF]
, 2015 Background: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail.
Boy, Nikolas +7 more
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A screen of Crohn's disease-associated microbial metabolites identifies ascorbate as a novel metabolic inhibitor of activated human T cells. [PDF]
, 2019 Microbial metabolites are an emerging class of mediators influencing CD4+ T-cell function. To advance the understanding of direct causal microbial factors contributing to Crohn's disease, we screened 139 predicted Crohn's disease-associated microbial ...
Borneman, James +19 more
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Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
Анналы клинической и экспериментальной неврологии, 2020 Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids ...
Elena V. Saifullina +6 more
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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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Electrochemical Characterization of Escherichia coli Adaptive Response Protein AidB [PDF]
, 2012 When exposed to known DNA-damaging alkylating agents, Escherichia coli cells increase production of four DNA repair enzymes: Ada, AlkA, AlkB, and AidB. The role of three enzymes (Ada, AlkA, and AlkB) in repairing DNA lesions has been well characterized ...
Becker +53 more
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GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN
Khyber Medical University Journal, 2022 INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry ...
Noshaba Noor, Hira Waseem
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Differential transcriptome analysis of glandular and filamentous trichomes in Artemisia annua [PDF]
, 2013 Background: The medicinal plant Artemisia annua is covered with filamentous trichomes and glandular, artemisinin producing trichomes. A high artemisinin supply is needed at a reduced cost for treating malaria. Artemisinin production in bioreactors can be
Deforce, Dieter +6 more
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Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]
J Inherit Metab DisABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Preisner F +8 more
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Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
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