Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/5220 |
Resumo: | Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment. Worsening of symptoms when the patient was treated with valproic acid, and plasma aminoacids showing an increase in alanine and proline, suggested a mitochondrial involvement of the proline metabolic pathway. Mild dysmorphic features also suggested a possible 22q11 deletion syndrome that was confirmed. A mutation for Hyperprolinemia type I was also detected. Knowledge of the correct diagnosis was crucial for an adequate treatment. |
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Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestationsHyperprolinemiaPsychiatric ManifestationsMicrodeletions of the 22q22q11Hyperprolinemia type IDeletion SyndromePRODH GeneSchizophreniaValproic AcidDoenças GenéticasLately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment. Worsening of symptoms when the patient was treated with valproic acid, and plasma aminoacids showing an increase in alanine and proline, suggested a mitochondrial involvement of the proline metabolic pathway. Mild dysmorphic features also suggested a possible 22q11 deletion syndrome that was confirmed. A mutation for Hyperprolinemia type I was also detected. Knowledge of the correct diagnosis was crucial for an adequate treatment.ElsevierRepositório Científico do Instituto Nacional de SaúdeDuarte, MarcoAfonso, JoanaMoreira, AnaAntunes, DianaFerreira, CristinaCorreia, HildebertoSequeira, Silvia2018-03-06T16:03:06Z2017-062017-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/5220engBrain Dev. 2017 Jun;39(6):539-541. doi: 10.1016/j.braindev.2017.01.008. Epub 2017 Feb 13.1872-7131(print)10.1016/j.braindev.2017.01.008info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:20Zoai:repositorio.insa.pt:10400.18/5220Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:13.858347Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations |
title |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations |
spellingShingle |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations Duarte, Marco Hyperprolinemia Psychiatric Manifestations Microdeletions of the 22q 22q11 Hyperprolinemia type I Deletion Syndrome PRODH Gene Schizophrenia Valproic Acid Doenças Genéticas |
title_short |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations |
title_full |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations |
title_fullStr |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations |
title_full_unstemmed |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations |
title_sort |
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations |
author |
Duarte, Marco |
author_facet |
Duarte, Marco Afonso, Joana Moreira, Ana Antunes, Diana Ferreira, Cristina Correia, Hildeberto Sequeira, Silvia |
author_role |
author |
author2 |
Afonso, Joana Moreira, Ana Antunes, Diana Ferreira, Cristina Correia, Hildeberto Sequeira, Silvia |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Duarte, Marco Afonso, Joana Moreira, Ana Antunes, Diana Ferreira, Cristina Correia, Hildeberto Sequeira, Silvia |
dc.subject.por.fl_str_mv |
Hyperprolinemia Psychiatric Manifestations Microdeletions of the 22q 22q11 Hyperprolinemia type I Deletion Syndrome PRODH Gene Schizophrenia Valproic Acid Doenças Genéticas |
topic |
Hyperprolinemia Psychiatric Manifestations Microdeletions of the 22q 22q11 Hyperprolinemia type I Deletion Syndrome PRODH Gene Schizophrenia Valproic Acid Doenças Genéticas |
description |
Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment. Worsening of symptoms when the patient was treated with valproic acid, and plasma aminoacids showing an increase in alanine and proline, suggested a mitochondrial involvement of the proline metabolic pathway. Mild dysmorphic features also suggested a possible 22q11 deletion syndrome that was confirmed. A mutation for Hyperprolinemia type I was also detected. Knowledge of the correct diagnosis was crucial for an adequate treatment. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-06 2017-06-01T00:00:00Z 2018-03-06T16:03:06Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/5220 |
url |
http://hdl.handle.net/10400.18/5220 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Brain Dev. 2017 Jun;39(6):539-541. doi: 10.1016/j.braindev.2017.01.008. Epub 2017 Feb 13. 1872-7131(print) 10.1016/j.braindev.2017.01.008 |
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info:eu-repo/semantics/embargoedAccess |
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embargoedAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132130843820032 |