›› 2014, Vol. 32 ›› Issue (6): 591-594.

• Original Article • Previous Articles     Next Articles

Hematological abnormality in inherited metabolic diseases 

HUANG Lizhen1, WU Jinlin1, QU Yi1,2
  

  1. (1. Department of Pedia-trics, West China Second University Hospital, Chengdu 610041, Sichuan, China; 2. Women and Children Diseases and Birth Defect Key Lab of Ministry of Education, Chengdu 610041, Sichuan, China)
  • Received:2014-06-26 Online:2014-06-15 Published:2014-06-15

Abstract: There are a variety of inherited metabolic diseases (IMD), the incidence is low and clinical manifestations are not characteristic. 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 promote early diagnosis, this article reviews five groups of IMD (lysosomal storage disease, vitaminopathies, organic aciduria, aminoacidopathies and others) and different hematological abnormal manifestations.