Hematological abnormality in inherited metabolic diseases

VernacularTitle:遗传性代谢病在血液系统的异常表现
Author: Lizhen HUANG ; Jinlin WU ; Yi QU
Publication Type:Journal Article
Keywords: inherited metabolic diseases; inborn errors of metabolism; hematological abnormality
From: Journal of Clinical Pediatrics 2014;(6):593-596
CountryChina
Language:Chinese
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.