Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation
Abstract 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 hypogl...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-06-01
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| Series: | Pediatric Investigation |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ped4.12135 |
| _version_ | 1818462266310262784 |
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| author | Shiyue Mei Chao Ma Yibing Cheng Suyun Qian Zhipeng Jin |
| author_facet | Shiyue Mei Chao Ma Yibing Cheng Suyun Qian Zhipeng Jin |
| author_sort | Shiyue Mei |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-14T23:59:18Z |
| format | Article |
| id | doaj.art-c2c1029bfa994eeeaaab676755bcd205 |
| institution | Directory Open Access Journal |
| issn | 2574-2272 |
| language | English |
| last_indexed | 2024-12-14T23:59:18Z |
| publishDate | 2019-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Pediatric Investigation |
| spelling | doaj.art-c2c1029bfa994eeeaaab676755bcd2052022-12-21T22:42:58ZengWileyPediatric Investigation2574-22722019-06-013212212610.1002/ped4.12135Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutationShiyue Mei0Chao Ma1Yibing Cheng2Suyun Qian3Zhipeng Jin4Department of Intensive Care Unit Henan provincial key laboratory of children's genetics and metabolic diseases Children's Hospital Affiliated to Zhengzhou University Zhengzhou Children's Hospital Zhengzhou Henan ChinaDepartment of Intensive Care Unit Children's Hospital Affiliated to Zhengzhou University Zhengzhou Children's Hospital Zhengzhou Henan ChinaDepartment of Intensive Care Unit Children's Hospital Affiliated to Zhengzhou University Zhengzhou Children's Hospital Zhengzhou Henan ChinaDepartment of Pediatric Critical Care Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing ChinaDepartment of Intensive Care Unit Children's Hospital Affiliated to Zhengzhou University Zhengzhou Children's Hospital Zhengzhou Henan ChinaAbstract 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.https://doi.org/10.1002/ped4.121356‐bisphosphatase deficiencyFBP1Fructose‐1HypoglycemiaMutationStatus epilepticus |
| spellingShingle | Shiyue Mei Chao Ma Yibing Cheng Suyun Qian Zhipeng Jin Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation Pediatric Investigation 6‐bisphosphatase deficiency FBP1 Fructose‐1 Hypoglycemia Mutation Status epilepticus |
| 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 | 6‐bisphosphatase deficiency FBP1 Fructose‐1 Hypoglycemia Mutation Status epilepticus |
| url | https://doi.org/10.1002/ped4.12135 |
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