Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mei, Shiyue, Ma, Chao, Cheng, Yibing, Qian, Suyun, Jin, Zhipeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
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
_version_ 1783553312341098496
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
work_keys_str_mv AT meishiyue statusepilepticusduetofructose16bisphosphatasedeficiencycausedbyfbp1genemutation
AT machao statusepilepticusduetofructose16bisphosphatasedeficiencycausedbyfbp1genemutation
AT chengyibing statusepilepticusduetofructose16bisphosphatasedeficiencycausedbyfbp1genemutation
AT qiansuyun statusepilepticusduetofructose16bisphosphatasedeficiencycausedbyfbp1genemutation
AT jinzhipeng statusepilepticusduetofructose16bisphosphatasedeficiencycausedbyfbp1genemutation