inborn error of metabolism

美 [ˌɪnˈbɔːrn ˈerər əv məˈtæbəlɪzəm]英 [ˌɪnˈbɔːn ˈerə(r) ɒv məˈtæbəlɪzəm]

noun

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

数据来源：WordNet

1

A study on the test and diagnosis of inborn error of metabolism by haematological cytochemistry

血液细胞化学用于先天性代谢缺陷患者及携带者的检出与诊断的研究
2

A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China

串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用
3

In China , there are 51 millions of disabled person and 22 millions of inborn error of metabolism patients and BDs are the main causes of these disabilities , which imposed great financial burden upon our country and society .

我国现有的5100多万残疾人和2200多万的各种遗传病患者中，大部分致残原因为出生缺陷，这给国家和社会带来了极大的经济负担。
4

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 .

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。