Results 41 to 50 of about 4,483 (224)
The Turkish Journal of Pediatrics, 2020 Background. Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been reported in the literature.
Sevil Dorum +3 more
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Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [PDF]
PLoS ONE, 2013 Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap.
Paris Jafari +5 more
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Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience [PDF]
Journal of Clinical and Diagnostic Research, 2017 Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine.
Ankur Singh +3 more
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A rare case of type i glutaric aciduria in an early child
Медицинский вестник Юга России, 2020 Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH).
A. A. Lebedenko +8 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2018 Objective: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain ...
Hsiu-Huei Peng +2 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2023 Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders.
Ayse Ergül Bozaci +8 more
doaj +1 more source
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I [PDF]
, 2007 Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease.
Banos +30 more
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Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
Metabolites, 2023 Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways.
Loai A. Shakerdi +4 more
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The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons [PDF]
, 2006 Multi-objective evolutionary algorithms (MOEAs) have become increasingly popular as multi-objective problem solving techniques. Most studies of MOEAs are empirical. Only recently, a few theoretical results have appeared.
Katja Brauburger +2 more
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Glutaric aciduria type 1 presenting with epilepsy [PDF]
Developmental Medicine & Child Neurology, 2009 Glutaric aciduria type 1 (GA‐1, OMIM 608801) is an autosomal‐recessive disorder resulting from a deficiency of glutaryl‐CoA dehydrogenase (GCDH). Clinical expression usually involves an acute encephalopathic episode in infancy, followed by the development of severe dystonia–dyskinesia. Other presentations include mild developmental delay, macrocephaly,
McClelland, Verity M +3 more
openaire +3 more sources