Clinical and genetic studies of two cases of fructose-1,6-bisphosphatase deficiency caused by FBP1 mutations
- Author:
Nan LYU
1
;
Qing SHANG
1
;
Cai-yun MA
1
Author Information
- Publication Type:Journal Article
- Keywords: fructose-1,6-bisphosphatase deficiency; FBP1 gene; gluconeogenesis disorder; hypoglycemia encephalopathy
- From: Chinese Journal of Practical Pediatrics 2019;34(10):854-858
- CountryChina
- Language:Chinese
- Abstract: OBJECTIVE: To analyze the clinical and molecular genetic characteristics of 2 cases of fructose-1,6-bisphosphatase deficiency in the same family to provide evidence for the precise treatment,genetic counseling and prenatal diagnosis.METHODS: Clinical data were collected from 2 patients with hypoglycemia encephalopathy,and molecular genetic analysis was performed using targeted capture next-generation sequencing. RESULTS: The 2 patients were siblings,the male proband was 7 years old,mainly manifested with convulsions after hunger or ingestion of a large amount of fructose,accompanied by ketoacidosis;clinical diagnosis was hypoglycemia encephalopathy,and fructose metabolism abnormalities was suspected. The younger brother was 4 years old,mainly showing hunger and sweating in the morning,stomach ache after eating fruit,and convulsion episode once after hunger. Next-generation sequencing results showed that the siblings had c.333+1＿2 delinsTC and c.490 G>A compound heterozygous mutations in the FBP1 gene,and their parents were carriers with normal phenotype.The c.333+1＿2 delins TCis a novel mutation,c.490 G>A is a reported pathogenic mutation,and the two patients were diagnosed with fructose-1,6-bisphosphatase deficiency genetically. CONCLUSION: For children with unexplained hypoglycemia,convulsions and metabolic acidosis,the fructose-1,6-bisphosphatase deficiency should be considered. Early genetic analysis is helpful to clarify the cause,make precise treatment and improve prognosis.
