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Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation
INTRODUCTION: Fructose‐1,6‐bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions. CASE PRESENTATION: We describe two brothers with FBPase deficiency. The proband developed s evere hypoglycemia...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331360/ https://www.ncbi.nlm.nih.gov/pubmed/32851303 http://dx.doi.org/10.1002/ped4.12135 |
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author | Mei, Shiyue Ma, Chao Cheng, Yibing Qian, Suyun Jin, Zhipeng |
author_facet | Mei, Shiyue Ma, Chao Cheng, Yibing Qian, Suyun Jin, Zhipeng |
author_sort | Mei, Shiyue |
collection | PubMed |
description | INTRODUCTION: Fructose‐1,6‐bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions. CASE PRESENTATION: We describe two brothers with FBPase deficiency. The proband developed s evere hypoglycemia and progressed to status epilepticus, and the brother showed slightly hypoglycemia with a good prognosis. Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1_333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose‐1,6‐bisphosphatase 1 gene in the two brothers, which were inherited from the father and the mother, respectively. CONCLUSION: Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient. |
format | Online Article Text |
id | pubmed-7331360 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-73313602020-08-25 Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation Mei, Shiyue Ma, Chao Cheng, Yibing Qian, Suyun Jin, Zhipeng Pediatr Investig Case Reports INTRODUCTION: Fructose‐1,6‐bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions. CASE PRESENTATION: We describe two brothers with FBPase deficiency. The proband developed s evere hypoglycemia and progressed to status epilepticus, and the brother showed slightly hypoglycemia with a good prognosis. Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1_333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose‐1,6‐bisphosphatase 1 gene in the two brothers, which were inherited from the father and the mother, respectively. CONCLUSION: Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient. John Wiley and Sons Inc. 2019-06-25 /pmc/articles/PMC7331360/ /pubmed/32851303 http://dx.doi.org/10.1002/ped4.12135 Text en © 2019 Chinese Medical Association. Pediatric Investigation published by John Wiley & Sons Australia, Ltd on behalf of Futang Research Center of Pediatric Development. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Reports Mei, Shiyue Ma, Chao Cheng, Yibing Qian, Suyun Jin, Zhipeng Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation |
title | Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation |
title_full | Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation |
title_fullStr | Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation |
title_full_unstemmed | Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation |
title_short | Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation |
title_sort | status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by fbp1 gene mutation |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331360/ https://www.ncbi.nlm.nih.gov/pubmed/32851303 http://dx.doi.org/10.1002/ped4.12135 |
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