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.
Artigo
em Chinês
| WPRIM
| ID: wpr-660515
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2017
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS