Sharer J Daniel
University of Alabama at Birmingham, Birmingham, Alabama.
Curr Protoc Hum Genet. 2016 Apr 1;89:17.1.1-17.1.16. doi: 10.1002/0471142905.hg1701s89.
Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases makes them a significant source of morbidity and mortality, particularly among infants and young children, and new conditions continue to be identified. Inherited metabolic disorders may present as an acute, life-threatening illness or with more chronic, progressive symptoms. Population-scale newborn screening allows for early detection and treatment for >40 different metabolic disorders. This introductory unit is intended to provide an overview of the different clinical categories of metabolic disorders, including a description of modern diagnostic methods and treatment options.
生化遗传学专注于遗传性代谢紊乱的病理生理学、诊断和治疗。虽然这些疾病个体发病率较低，但综合发病率使其成为发病和死亡的重要原因，尤其是在婴幼儿中，并且不断有新的病症被发现。遗传性代谢紊乱可能表现为急性、危及生命的疾病，或伴有更慢性、进行性的症状。大规模人群新生儿筛查可对40多种不同的代谢紊乱进行早期检测和治疗。本入门单元旨在概述代谢紊乱的不同临床类别，包括对现代诊断方法和治疗选择的描述。
