Inherited Metabolic Diseases as Etiological Factors in Cytopenia

Inherited metabolic diseases IMD , could affect one or more than system and present different clinical situations. Hematologic system abnormalities are common occurrence in IMD. Cytopenia has been the most frequently observed hema- tologic finding. This may be the one and only symptom of the disease. Early recognition will provide early treatment and also monitoring the possibly affected systems. Considering the higher incidence of metabolic disorders in our country, a complete blood count and peripheral smear should be part of diagnostic evaluation of metabolic diseases. It would be wise to evaluate IMDs when cytopenia is associated with additio- nal system involvement, atypical course or unknown etiology. This article contains an extensive list of differential diagnoses of metabolic causes of cytopenia