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
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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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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
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Aerobic growth of Rhodococcus aetherivorans BCP1 using selected naphthenic acids as the sole carbon and energy sources [PDF]
, 2018 Naphthenic acids (NAs) are an important group of toxic organic compounds naturally occurring in hydrocarbon deposits. This work shows that Rhodococcus aetherivorans BCP1 cells not only utilize a mixture of eight different NAs (8XNAs) for growth but they ...
Cappelletti M. +12 more
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Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH
Fundamental Research, 2022 Glutaric aciduria type I (GA-I) is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Patients who do not receive proper treatment may die from acute encephalopathic crisis.
Lu Guo +12 more
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Hypoglycaemia related to inherited metabolic diseases in adults
Orphanet Journal of Rare Diseases, 2012 In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious.
Douillard Claire +5 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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User-Loaded SlipChip for Equipment-Free Multiplexed Nanoliter-Scale Experiments [PDF]
, 2010 This paper describes a microfluidic approach to perform multiplexed nanoliter-scale experiments by combining a sample with multiple different reagents, each at multiple mixing ratios. This approach employs a user-loaded, equipment-free SlipChip.
Du, Wenbin, Ismagilov, Rustem, Li, Liang
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Journal of Lipid Research, 1992 Inhibitors of 3-hydroxy-3-methyl glutaryl coenzyme A (HMG-CoA) reductase have been approved for treatment of hypercholesterolemia in humans. This class of therapeutic agents, in addition to lowering plasma cholesterol, reduces plasma triglyceride levels.
SE Kasim +5 more
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Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]
, 2017 Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong +34 more
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