甲基丙二酸血症

儿童甲基丙二酸血症颅脑常规MRI影像分析

MRI Diagnosis of Methylmalonic Acidemia in Children

目前确诊甲基丙二酸血症有效方法是气相色谱／质谱法（GasChromatography/massSpectrometry，GC/MS）尿有机酸分析。

Definitive diagnosis of methylmalonic acidemia relies on analysis of organic acids in urine by gas-liquid chromatography / mass spectrometry ( GC / MS ) .

探讨新生儿甲基丙二酸血症（MMA）的临床特征和治疗方法。

Objective This study aimed to explore the clinical characteristics and treatment of neonatal methylmalonic academia ( MMA ) .

目的通过对3例以昏迷为主诉而入院的甲基丙二酸血症（MMA）患儿的临床治疗及生化学监测的分析，提高儿科医生对昏迷、酸中毒与遗传代谢性疾病的关系的认识。

Objective To improve the pediatrician 's knowledge of the relationship between the symptom of coma , ketoacidosis and inborn error of metabolism through the summary of three cases of methylmalonic acidemia ( MMA ) with initial symptom of coma .

甲基丙二酸血症14例诊断及治疗分析

Diagnosis and treatment of methylmalonic acidemia in 14 cases

以昏迷为首发症状的甲基丙二酸血症3例临床研究

Methylmalonic acidemia with initial symptom of coma : clinical analysis of 3 cases

目的：探讨甲基丙二酸血症的早期诊断及治疗干预方法。

Objective : To investigate the early diagnosis and therapy of methylmalonic acidemias .

新生儿甲基丙二酸血症20例临床分析

Clinical analysis of neonatal methylmalonic academia in 20 cases

甲基丙二酸血症是一种常染色体隐性遗传的有机酸血症，在先天性有机酸代谢异常中最为常见。

Methylmalonic acidemia is one of the most common disorders of congenital organic acid metabolism .

甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。

Methylmalonic acidemia is an inherited metabolic disorder , which is caused by deficiency of methylmalonyl-coenzyme A mutase or its cofactor adenosylcobalamin .

方法对5例甲基丙二酸血症患儿的临床表现、生化特点、诊疗情况进行分析。

Methods The clinical course , laboratory examination , treatment and outcome of 5 patients with methylmalonic aciduria detected by gas chromatography / mass spectrometry ( GC / MS ) were analyzed .