[Methylmalonic aciduria. A case report].
作者信息
van Dyk J C, Meiring J L, Prinsloo J G
出版信息
S Afr Med J. 1982 Oct 30;62(19):700-2.
PMID:7135128
Abstract
A Black girl aged 19 months presented with vomiting, dehydration and severe acidosis without apparent cause. Further investigation revealed urinary excretion of large amounts of methylmalonic acid. The literature on methylmalonic aciduria is briefly reviewed. Seven possible biochemical defects have been described. Our patient did not improve with vitamin B12 therapy but the response after instituting a low-protein diet was excellent. The condition may be life-threatening if left untreated.
摘要
相似文献
1
[Methylmalonic aciduria. A case report].
S Afr Med J. 1982 Oct 30;62(19):700-2.
2
A case of vitamin B12--independent methylmalonic aciduria.
Mater Med Pol. 1991 Jul-Sep;23(3):219-22.
3
Methylmalonic aciduria (1 case report).甲基丙二酸尿症（1例报告）
Proc Chin Acad Med Sci Peking Union Med Coll. 1987;2(3):183-5.
4
[Carnitine in the treatment of methylmalonic aciduria (MMA)].[肉碱在甲基丙二酸尿症（MMA）治疗中的应用]
Monatsschr Kinderheilkd. 1986 Oct;134(10):758-61.
5
B12-unresponsive methylmalonic aciduria in a female infant.
J Inherit Metab Dis. 1980;3(3):91-2. doi: 10.1007/BF02312536.
6
7
[Pharmacologic and dietetic treatment of 2 siblings with atypical methylmalonic aciduria].[两名非典型甲基丙二酸尿症患儿的药物及饮食治疗]
Minerva Pediatr. 1984 Oct 31;36(20):999-1002.
8
Methylmalonic aciduria in a black female child with congenital short femur on the right side.一名右侧先天性股骨短小的黑人女童患甲基丙二酸尿症。
J Inherit Metab Dis. 1981;4(2):107-8. doi: 10.1007/BF02263614.
9
[Methylmalonic aciduria].[甲基丙二酸尿症]
Nihon Rinsho. 1978 May;Suppl:1362-3.
10
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.一种伴有高胱氨酸尿症、甲基丙二酸尿症和大细胞性贫血的钴胺素代谢缺陷。
Neuropediatrics. 1986 May;17(2):94-9. doi: 10.1055/s-2008-1052508.
Zotero 插件