Catatonia and Glucose-6-Phosphate Dehydrogenase Deficiency: A Report of Two Cases and a Review

Raj, Vidya; Chism, Keira; Minckler, Michael R.; Denysenko, Lex

doi:10.1016/j.psym.2013.06.011

Cited by 7 publications

(2 citation statements)

References 17 publications

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“…G6PD deficiency increases the risk of kernicterus and death from neonatal jaundice (Cunningham et al, 2016) and has also been associated with bipolar and schizoaffective disorders (Raj et al, 2014), erectile dysfunction (Morrison et al, 2014), and vitiligo (Namazi, 2015). Because G6PD plays an essential role in maintaining healthspan by protection against oxidative damage (Nóbrega-Pereira et al, 2016), the effects of G6PD deficiency on human health have likely been underestimated and thus it is expected that additional consequences of G6PD deficiency will be identified in the future (Spencer and Stanton, 2016; Stanton, 2012).…”

Section: Discussionmentioning

confidence: 99%

Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

et al. 2017

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Summary G6PD deficiency, an enzymopathy affecting 7% of the world population, is caused by over 160 identified amino acid variants in glucose-6-phosphate dehydrogenase (G6PD). The clinical presentation of G6PD deficiency is diverse, likely due to the broad distribution of variants across the protein and the potential for multidimensional biochemical effects. In this study, we use bioinformatic and biochemical analyses to interpret the relationship between G6PD variants and their clinical phenotype. Using structural information and statistical analyses of known G6PD variants, we predict the molecular phenotype of five uncharacterized variants from a reference population database. Through multidimensional analysis of biochemical data, we demonstrate that the clinical phenotypes of G6PD variants are largely determined by a trade-off between protein stability and catalytic activity. This work expands the current understanding of the biochemical underpinnings of G6PD variant pathogenicity, and suggests a promising avenue for correcting G6PD deficiency by targeting essential structural features of G6PD.

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Section: Discussionmentioning

confidence: 99%

Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

et al. 2017

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“…A deficiência de G6PD deve ser considerada se o paciente teve uma infecção viral ou bacteriana recente ou entrou em contato com um fator desencadeante conhecido (como favas, sulfas ou naftaleno), seguido de um episódio de hemólise (RAJ et al, 2014). A dosagem de G6PD é feita principalmente em pacientes com sintomas de anemia (como fadiga, palidez e taquicardia) e/ou icterícia (NÓBREGA-PEREIRA et al, 2016).…”

Section: Metodologiaunclassified

A síndrome G6PD e suas implicações no atendimento ao Paciente Odontopediátrico: Uma Revisão da literatura / G6PD deficiency and its implications for Pediatric Dental Care: A Literature Review

et al. 2019

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O objetivo do presente estudo, por meio de uma revisão de literatura, levantar dados pertinentes sobre a síndrome G6PD, as limitações nas prescrições medicamentosas e a importância para o cirurgião-dentista, principalmente o Odontopediatra, em ter o conhecimento desta síndrome e suas repercussões sistêmicas. A pesquisa bibliográfica foi realizada em bancos de dados, Pubmed, Google Scholar e Lilacs, nos quais foram utilizados os artigos científicos publicados nos últimos 10 anos para a revisão de literatura. A fim de contribuir para a qualidade de vida dos portadores de deficiência de G6PD, estudos apontam os fármacos ou alimentos que devem ser evitados. Diante de tal situação, salienta-se a função primordial da G6PD na sobrevida dos eritrócitos, e destaca-se que o estudo desta enzimopatia levará ao conhecimento não apenas da via das pentoses, mas também dos mecanismos intracelulares que nosso organismo a todo momento lança mão para garantir o bem-estar do corpo humano.

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Pediatric Catatonia

Starner¹,

Ames²,

Gordon³

et al. 2018

Complex Disorders in Pediatric Psychiatry

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Catatonia and Glucose-6-Phosphate Dehydrogenase Deficiency: A Report of Two Cases and a Review

Cited by 7 publications

References 17 publications

Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

A síndrome G6PD e suas implicações no atendimento ao Paciente Odontopediátrico: Uma Revisão da literatura / G6PD deficiency and its implications for Pediatric Dental Care: A Literature Review

Pediatric Catatonia

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