Mutation analysis of an adult patient with fructose-1,6-bisphosphatase deficiency in a Chinese family / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 752-754, 2017.
Article
en Zh
| WPRIM
| ID: wpr-662667
Biblioteca responsable:
WPRO
ABSTRACT
The gene mutations of a patient with fructose-1,6-bisphosphatase (FBPase) deficiency and her parents were analyzed and her clinical manifestations, laboratory tests, and genetic characteristics were reviewed. The molecular analysis of FBP1 gene showed a G residue duplication at base 960 in exon 7(c. 960dupG) in this patient while her parents carried the heterozygous c. 960dupG mutation. The prominent clinical feature of this patient was the benign course of the disease with age. However, acute attack could be triggered by stress, long-time fasting, a large amounts of fructose intake, etc. The typical clinical manifestations were severe lactic acidosis, hypoglycemia, and elevated liver enzymes.
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1
Base de datos:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Endocrinology and Metabolism
Año:
2017
Tipo del documento:
Article