CAJ | 학술논문

遗传性代谢病种类多，发病率低，临床表现多样且非特异。遗传代谢病主要影响神经系统，也会影响血液系统，表现为血细胞的形态、数目及骨髓异常。目前临床对遗传代谢病的血液系统异常认识不足，易造成误诊。文章主要对伴有血液系统异常的5大类遗传性代谢病（溶酶体病、维生素代谢障碍、有机酸及氨基酸代谢障碍和其他类疾病）的异常血液表现进行综述，有助于疾病的早期诊断。
유전성대사병충류다，발병솔저，림상표현다양차비특이。유전대사병주요영향신경계통，야회영향혈액계통，표현위혈세포적형태、수목급골수이상。목전림상대유전대사병적혈액계통이상인식불족，역조성오진。문장주요대반유혈액계통이상적5대류유전성대사병（용매체병、유생소대사장애、유궤산급안기산대사장애화기타류질병）적이상혈액표현진행종술，유조우질병적조기진단。
There are a variety of inherited metabolic diseases (IMD), the incidence is low and clinical manifestations are not char-acteristic. IMD primarily affect not only the nervous system, but also the blood system, which characterized by the abnormalities of blood cells and bone marrow. Because of some clinician's lack of this knowledge, some patients are prone to be misdiagnosed. To pro-mote early diagnosis, this article reviews five groups of IMD (lysosomal storage disease, vitaminopathies, organic aciduria, amino-acidopathies and others) and different hematological abnormal manifestations.