From: Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
Most common | |
G6PD deficiency | AR |
PK deficiency | AR |
Impaired mental development | |
Phosphoglycerate kinase deficiency | X-linked |
Glutathione synthetase deficiency | AR |
Triosephosphate isomerase deficiency | AR |
Myopathy | |
Phosphofructokinase deficiency | AR |
Phosphoglycerate kinase deficiency | X-linked |
Less common without extra-hematological symptoms | |
P5′N (most common after G6PD and PK deficiency) | AR |
Adenylate kinase deficiency | AR |
GPI deficiency | AR |
Hexokinase deficiency | AR |
Glutathione reductase deficiency* | AR |