Figure 1.

Schematic of the de novo pyrimidine biosynthesis pathway. UDP4003 Pedigree and characterization of CDAII/HEMPAS like phenotype. (A) Diagram showing the de novo pyrimidine biosynthesis pathway with known disorders highlighted with an (X) over the arrow. (B) Peripheral blood smear showing abnormal erythrocytes with characteristics of varying sizes and abnormal shapes (anisopoikilocytosis), spiked cell membrane (acanthocytes) and fragmented with pointed ends (schistocytes) resulting in a dyserythropoietic anemia phenotype. (C) Western blot analysis of RBC proteins, RhAG and Band-3, showing slower migration consistent with abnormal glycosylation.