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
core +1 more source
The Function of Arg-94 in the Oxidation and Decarboxylation of Glutaryl-CoA by Human Glutaryl-CoA Dehydrogenase [PDF]
Journal of Biological Chemistry, 2001 Glutaryl-CoA dehydrogenase catalyzes the oxidation and decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2). Inherited defects in the protein cause glutaric acidemia type I, a fatal neurologic disease. Glutaryl-CoA dehydrogenase is the only member of the acyl-CoA dehydrogenase family with a cationic residue, Arg-94, situated in the binding site of
T M, Dwyer +4 more
openaire +2 more sources
Reconstruction of diaminopimelic acid biosynthesis allows characterisation of Mycobacterium tuberculosis N-succinyl-L,L-diaminopimelic acid desuccinylase [PDF]
, 2016 With the increased incidence of tuberculosis (TB) caused by Mycobacterium tuberculosis there is an urgent need for new and better anti-tubercular drugs.
Besra, Gurdyal S. +9 more
core +2 more sources
An Updated genome annotation for the model marine bacterium Ruegeria pomeroyi DSS-3 [PDF]
, 2014 When the genome of Ruegeria pomeroyi DSS-3 was published in 2004, it represented the first sequence from a heterotrophic marine bacterium. Over the last ten years, the strain has become a valuable model for understanding the cycling of sulfur and carbon ...
Adam R Rivers +2 more
core +10 more sources
A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1
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
doaj +1 more source
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]
, 2017 Background: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Bodamer, Olaf +6 more
core +1 more source
Dietary moderately oxidized oil induces expression of fibroblast growth factor 21 in the liver of pigs [PDF]
, 2012 BACKGROUND: Fibroblast growth factor 21 (FGF21), whose expression is induced by peroxisome proliferator-activated receptor alpha (PPARalpha), has been recently identified as a novel metabolic regulator which plays a crucial role in glucose homeostasis ...
Eder, Klaus +2 more
core +2 more sources
Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity [PDF]
Developmental Medicine & Child Neurology, 1998 Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3‐hydioxyglutarate and conjugated glutarate excretions. Both siblings have high residual glutaryl‐CoA dehydrogenase activity, and are compound heterozygotes for two mutations ‐ R227P and V400M ‐ reported to be ...
M, Pineda +5 more
openaire +2 more sources
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
core +1 more source
Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model. [PDF]
PLoS ONE, 2014 Acute neurological crises involving striatal degeneration induced by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and the accumulation of glutaric (GA) and 3-hydroxyglutaric acid (3-OHGA) are considered to be the most striking features of glutaric ...
Xi Fu +7 more
doaj +1 more source