Advances on the research of 3-hydroxy-3-methylglutaric aciduria / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 635-637, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-696462
ABSTRACT
3-hydroxy-3-methylglutaric aciduria is a rare organic aciduria inherited by autosomal recessive trait.It is caused by the mutations in 3-hydroxy-3-methylglutaryl-CoA lyase gene.The clinical onset usually occurs in the neonatal and infant period.In recent years,with the development of technology for screening inherited metabolic diseases,the number of children with 3-hydroxy-3-methylglutaric aciduria are increasing.The incidence of this disease is about 1 ∶ 100 000 in reports of Europe and the United States.The incidence in China is unknown.In this paper,the advances on pathogenesis,clinical manifestations,diagnosis and treatment of 3-hydroxy-3-methylglutaric aciduria will be reviewed so as to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2018
Type:
Article
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