Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity
Autor(a) principal: | |
---|---|
Data de Publicação: | 2016 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of Inborn Errors of Metabolism and Screening |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100403 |
Resumo: | Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of the metabolism of creatine that leads to depleted levels of creatine and excessive concentrations of guanidinoacetate (GAA). Patients affected develop neurological symptoms during childhood, such as muscular hypotonia, involuntary extrapyramidal movements, convulsions, slurred speech, and even autism. Although the pathophysiology of GAMT deficiency is unclear, neurological dysfunction is commonly found in this disease, and it has been mainly attributed to a reduction in creatine or/and an increase in GAA levels. Reports from literature suggest that GAA may interfere with neuronal γ-aminobutyric acid (GABA) receptors type A and cause epilepsy in human. Preclinical studies show that GAA increases free radical formation and decreases brain antioxidant defenses, inducing alteration in oxidative status. Guanidinoacetate also impairs energy metabolism in brain. The discussion of this review focuses on various and latest studies addressing GAMT deficiency and creatine metabolism, as well as addresses the question of neurotoxicity GAA. |
id |
IGPT-1_e22db7b4d19eaeba0dd9b9c822ec96ae |
---|---|
oai_identifier_str |
oai:scielo:S2326-45942016000100403 |
network_acronym_str |
IGPT-1 |
network_name_str |
Journal of Inborn Errors of Metabolism and Screening |
repository_id_str |
|
spelling |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicityguanidinoacetate methyltransferase deficiencycreatineguanidinoacetateneurotoxicityAbstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of the metabolism of creatine that leads to depleted levels of creatine and excessive concentrations of guanidinoacetate (GAA). Patients affected develop neurological symptoms during childhood, such as muscular hypotonia, involuntary extrapyramidal movements, convulsions, slurred speech, and even autism. Although the pathophysiology of GAMT deficiency is unclear, neurological dysfunction is commonly found in this disease, and it has been mainly attributed to a reduction in creatine or/and an increase in GAA levels. Reports from literature suggest that GAA may interfere with neuronal γ-aminobutyric acid (GABA) receptors type A and cause epilepsy in human. Preclinical studies show that GAA increases free radical formation and decreases brain antioxidant defenses, inducing alteration in oxidative status. Guanidinoacetate also impairs energy metabolism in brain. The discussion of this review focuses on various and latest studies addressing GAMT deficiency and creatine metabolism, as well as addresses the question of neurotoxicity GAA.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2016-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100403Journal of Inborn Errors of Metabolism and Screening v.4 2016reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409816669371info:eu-repo/semantics/openAccessMarques,Eduardo P.Wyse,Angela T. S.eng2019-05-28T00:00:00Zoai:scielo:S2326-45942016000100403Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-05-28T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity |
title |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity |
spellingShingle |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity Marques,Eduardo P. guanidinoacetate methyltransferase deficiency creatine guanidinoacetate neurotoxicity |
title_short |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity |
title_full |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity |
title_fullStr |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity |
title_full_unstemmed |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity |
title_sort |
Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity |
author |
Marques,Eduardo P. |
author_facet |
Marques,Eduardo P. Wyse,Angela T. S. |
author_role |
author |
author2 |
Wyse,Angela T. S. |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Marques,Eduardo P. Wyse,Angela T. S. |
dc.subject.por.fl_str_mv |
guanidinoacetate methyltransferase deficiency creatine guanidinoacetate neurotoxicity |
topic |
guanidinoacetate methyltransferase deficiency creatine guanidinoacetate neurotoxicity |
description |
Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of the metabolism of creatine that leads to depleted levels of creatine and excessive concentrations of guanidinoacetate (GAA). Patients affected develop neurological symptoms during childhood, such as muscular hypotonia, involuntary extrapyramidal movements, convulsions, slurred speech, and even autism. Although the pathophysiology of GAMT deficiency is unclear, neurological dysfunction is commonly found in this disease, and it has been mainly attributed to a reduction in creatine or/and an increase in GAA levels. Reports from literature suggest that GAA may interfere with neuronal γ-aminobutyric acid (GABA) receptors type A and cause epilepsy in human. Preclinical studies show that GAA increases free radical formation and decreases brain antioxidant defenses, inducing alteration in oxidative status. Guanidinoacetate also impairs energy metabolism in brain. The discussion of this review focuses on various and latest studies addressing GAMT deficiency and creatine metabolism, as well as addresses the question of neurotoxicity GAA. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100403 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100403 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1177/2326409816669371 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening v.4 2016 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
instname_str |
Instituto Genética para Todos (IGPT) |
instacron_str |
IGPT |
institution |
IGPT |
reponame_str |
Journal of Inborn Errors of Metabolism and Screening |
collection |
Journal of Inborn Errors of Metabolism and Screening |
repository.name.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT) |
repository.mail.fl_str_mv |
jiems@jiems-journal.org||rgiugliani@hcpa.edu.br |
_version_ |
1754732519945666560 |