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Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report.
Xin, Bin; Chen, Haiming; Liu, Tianyi; Wu, Yue; Hu, Qingyang; Dong, Xue; Li, Zhong.
Afiliación
  • Xin B; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
  • Chen H; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China.
  • Liu T; Department of Emergency Medicine, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
  • Wu Y; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
  • Hu Q; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
  • Dong X; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China.
  • Li Z; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Mol Genet Genomic Med ; 12(1): e2339, 2024 Jan.
Article en En | MEDLINE | ID: mdl-38111981
ABSTRACT

BACKGROUND:

Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessively inherited metabolic disorder characterized by impaired gluconeogenesis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear.

METHODS:

We report a pediatric patient with typical FBPase deficiency who presented with hypoglycemia, hyperlactatemia, metabolic acidosis, and hyperuricemia. Whole-exome sequencing was used to search for pathogenic genes, Sanger sequencing was used for verification, and molecular dynamic simulation was used to evaluate how the novel mutation affects FBPase activity and structural stability.

RESULTS:

Direct and allele-specific sequence analysis of the FBP1 gene (NM_000507) revealed that the proband had a compound heterozygote for the c. 490 (exon 4) G>A (p. G164S) and c. 861 (exon 7) C>A (p. Y287X, 52), which he inherited from his carrier parents. His father and mother had heterozygous G164S and Y287X mutations, respectively, without any symptoms of hypoglycemia.

CONCLUSION:

Our results broaden the known mutational spectrum and possible clinical phenotype of FBP1.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acidosis Láctica / Deficiencia de Fructosa-1,6-Difosfatasa / Hipoglucemia Límite: Child / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acidosis Láctica / Deficiencia de Fructosa-1,6-Difosfatasa / Hipoglucemia Límite: Child / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos