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Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation
Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of GSS mutations and the genotype–phenotype association remain unclear. Here, we...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413980/ https://www.ncbi.nlm.nih.gov/pubmed/37576147 http://dx.doi.org/10.3389/fped.2023.1212405 |
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author | Wu, Xiaojiao Jiao, Jiancheng Xia, Yaofang Yan, Xiaotong Liu, Zehao Cao, Yanyan Ma, Li |
author_facet | Wu, Xiaojiao Jiao, Jiancheng Xia, Yaofang Yan, Xiaotong Liu, Zehao Cao, Yanyan Ma, Li |
author_sort | Wu, Xiaojiao |
collection | PubMed |
description | Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of GSS mutations and the genotype–phenotype association remain unclear. Here, we present a severely affected infant carrying a compound heterozygous GSS variation, c.491G > A, and a novel variant of c.1343_1348delTACTTC. We also summarize the clinical manifestations, treatment protocol, prognosis, and genetic characteristics of previously reported GSSD cases in China. In this case study, our patient presented with tachypnea, jaundice, intractable metabolic acidosis, and hemolytic anemia. Urinary-organic acid analysis revealed elevated 5-oxoproline levels. Further, this patient showed improved outcomes owing to early diagnosis and the timely administration of vitamins C and E. Therefore, our study indicates that in clinical cases of unexplained hemolytic anemia and metabolic acidosis, GSSD should be considered. Additionally, genetic testing and antioxidant application might help identify GSSD and improve the prognosis. |
format | Online Article Text |
id | pubmed-10413980 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-104139802023-08-11 Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Wu, Xiaojiao Jiao, Jiancheng Xia, Yaofang Yan, Xiaotong Liu, Zehao Cao, Yanyan Ma, Li Front Pediatr Pediatrics Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of GSS mutations and the genotype–phenotype association remain unclear. Here, we present a severely affected infant carrying a compound heterozygous GSS variation, c.491G > A, and a novel variant of c.1343_1348delTACTTC. We also summarize the clinical manifestations, treatment protocol, prognosis, and genetic characteristics of previously reported GSSD cases in China. In this case study, our patient presented with tachypnea, jaundice, intractable metabolic acidosis, and hemolytic anemia. Urinary-organic acid analysis revealed elevated 5-oxoproline levels. Further, this patient showed improved outcomes owing to early diagnosis and the timely administration of vitamins C and E. Therefore, our study indicates that in clinical cases of unexplained hemolytic anemia and metabolic acidosis, GSSD should be considered. Additionally, genetic testing and antioxidant application might help identify GSSD and improve the prognosis. Frontiers Media S.A. 2023-07-27 /pmc/articles/PMC10413980/ /pubmed/37576147 http://dx.doi.org/10.3389/fped.2023.1212405 Text en © 2023 Wu, Jiao, Xia, Yan, Liu, Cao and Ma. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Wu, Xiaojiao Jiao, Jiancheng Xia, Yaofang Yan, Xiaotong Liu, Zehao Cao, Yanyan Ma, Li Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation |
title | Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation |
title_full | Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation |
title_fullStr | Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation |
title_full_unstemmed | Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation |
title_short | Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation |
title_sort | case report: a chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413980/ https://www.ncbi.nlm.nih.gov/pubmed/37576147 http://dx.doi.org/10.3389/fped.2023.1212405 |
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