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戊二酸尿症Ⅱ型(glutaric aciduria typeⅡ,GAⅡ)是一种脂肪酸氧化代谢障碍性疾病,属常染色体隐性遗传。其发病率低,到目前国内报道约100例[1-3]。该病临床表现复杂,个体差异大,累及多脏器,极易误诊。本文报道1例以肝病为首发表现的GAⅡ,并对相关文献进行复习。1病例摘要患儿,男,11岁,汉族。因“乏力、纳差1个月伴肝功能异常10 d”入院。1个月前无明显诱因出现全
Glutaric aciduria type Ⅱ (glutaric aciduria type Ⅱ, GA Ⅱ) is a fatty acid metabolism disorders, autosomal recessive inheritance. Its incidence is low, up to now about 100 cases reported [1-3]. The clinical manifestations of the complex disease, individual differences, involving multiple organs, easily misdiagnosed. This article reports a case of liver disease as the first manifestation of GA Ⅱ, and review the relevant literature. 1 case summary Children, male, 11 years old, Han nationality. Because “fatigue, anorexia 1 month with abnormal liver function 10 d ” admission. 1 month ago no obvious incentive appears full