Hematological abnormality in inherited metabolic diseases / 临床儿科杂志

ABSTRACT

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.