2019
DOI: 10.1002/jimd.12180
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Inborn errors of enzymes in glutamate metabolism

Abstract: Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism. Seventeen genetic defects of glutamate metabolising enzymes have been reported, of which three were only recently identified. These 17 defects affect the inter‐conversion of glutamine and glutamate, amino acid metabolism, ammonia detoxification, and glutathione metabolism. We provide an overview of the clinical a… Show more

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Cited by 21 publications
(11 citation statements)
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“…5-Oxoproline, also known as pyroglutamic acid, is a cyclized derivative of l -glutamic acid that participates substantially in the glutamate and glutathione metabolism [ 34 ]. Disturbances in glutamate and glutathione metabolism can lead to a series of neurologic phenotypes, including developmental delay, ataxia, seizures, and intellectual disability [ 35 ]. Moreover, 5-oxoproline was also developed and sold as an over-the-counter “smart drug” for cognitive and memory improvement [ 36 , 37 ].…”
Section: Discussionmentioning
confidence: 99%
“…5-Oxoproline, also known as pyroglutamic acid, is a cyclized derivative of l -glutamic acid that participates substantially in the glutamate and glutathione metabolism [ 34 ]. Disturbances in glutamate and glutathione metabolism can lead to a series of neurologic phenotypes, including developmental delay, ataxia, seizures, and intellectual disability [ 35 ]. Moreover, 5-oxoproline was also developed and sold as an over-the-counter “smart drug” for cognitive and memory improvement [ 36 , 37 ].…”
Section: Discussionmentioning
confidence: 99%
“…5-oxoproline, also known as pyroglutamic acid, is a cyclized derivative of L-glutamic acid that participates substantially in the glutamate and glutathione metabolism [33]. Disturbances in glutamate and glutathione metabolism can lead to a series of neurologic phenotypes, including developmental delay, ataxia, seizures, and intellectual disability [34]. Moreover, 5-oxoproline was also developed and sold as an over-the-counter "smart drug" for cognitive and memory improvement [35,36].…”
Section: Discussionmentioning
confidence: 99%
“…5-oxoproline, also known as pyroglutamic acid, is a cyclized derivative of L-glutamic acid that participates substantially in the glutamate and glutathione metabolism [30]. Disturbances in glutamate and glutathione metabolism can lead to a series of neurologic phenotypes, including developmental delay, ataxia, seizures, and intellectual disability [31]. Moreover, 5-oxoproline was also developed and sold as an over-the-counter "smart drug" for cognitive and memory improvement [32,33].…”
Section: Discussionmentioning
confidence: 99%