1) Inborn errors of metabolism
遗传性代谢病
2) inherited metabolic liver disorders
遗传代谢性肝病
1.
Comparative study of liver fibrosis in several kinds of inherited metabolic liver disorders;
几种重要遗传代谢性肝病肝纤维化的比较研究
3) hereditary metabolic disease
遗传代谢性疾病
1.
Present research reveals that 25% fatal LCHAD deficiency are associated with neonatal hereditary metabolic disease and the recurrence in subsequent pregnancies is unknown,h
据报道25%新生儿可能因LCHAD缺陷导致遗传代谢性疾病发生,而AFLP再发风险未知,因此对于高危孕妇及AFLP患者子代进行基因检测及随访十分必要。
4) inherited metabolic diseases
遗传代谢病
1.
Clinical application of hematopoietic stem cell transplantation in the treatment of childhood inherited metabolic diseases;
造血干细胞移植在遗传代谢病治疗中的应用
2.
Clinical features and analysis of inherited metabolic diseases in neonatal intensive care unit;
新生儿重症监护病房中遗传代谢病的临床特点及分析
5) Inherited metabolic liver disease
遗传性肝脏代谢性疾病
6) Hereditary endocrine and metabolic diseases
遗传性内分泌代谢疾病
补充资料：遗传性代谢病
遗传性代谢病
是一组先天性人体生化紊乱所致的疾病，属单基因病。目前已知300余种，多数为酶缺陷病，少数为非酶缺陷病。酶缺陷病大多为常染色体隐性遗传，个别为X连锁遗传。遗传性代谢病可分为以下几种：①反应底物及其副产物的堆积如苯丙酮尿症；②中间代谢产物堆积，如米乳糖血症、枫糖尿症、尿黑酸尿症等；③代谢终产物缺乏，如克汀病，白化病；④反馈抑制减弱如21-羟化酶缺陷；⑤酶活性升高使产物生成过多，如痛风；⑥受体或转运缺陷，如家族性高胆固醇血症。溶酶体贮积症：黏多糖贮积症、黏酯储积症。异染性脑白质营养不良、戈谢病、Nimarm-Pick病、GM1或GM2神经节苷脂贮积症、糖原贮积症。
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参考词条