Comparing glut1 deficiency conditions
| . | Glut1DS . | PED . | PED + anemia . | sdCHC + anemia . |
|---|---|---|---|---|
| Hypoglycorrhachia | Yes | Yes | NK | NK |
| Seizures | Yes | Yes | Yes | Yes |
| Mental retardation | Yes | Mild | Mild | Yes |
| Growth retardation | Yes | Mild | Mild | Yes |
| Movement disorder | Yes | Yes | Yes | Yes |
| Hemolytic anemia | No | No | Yes | Yes |
| Hepatosplenomegaly | No | No | Yes | Yes |
| Stomatin-deficient | No | NK | NK | Yes |
| Monovalent cation leak | No | No | Yes | Yes |
| Ca2+ leak | No | No | Yes | No |
| RBC structure | Normal? | Normal? | Echinocytic | Stomatocytic |
| Cataracts | No | No | No | Yes |
| Cation leaky glut1 in blood/brain barrier | No | No | No | Possibly |
| Cation leaky glut1 in lens epithelium | No | No | No | Probably |
| Cation leaky glut1 in red cell membrane | No | No | Yes | Yes |
| . | Glut1DS . | PED . | PED + anemia . | sdCHC + anemia . |
|---|---|---|---|---|
| Hypoglycorrhachia | Yes | Yes | NK | NK |
| Seizures | Yes | Yes | Yes | Yes |
| Mental retardation | Yes | Mild | Mild | Yes |
| Growth retardation | Yes | Mild | Mild | Yes |
| Movement disorder | Yes | Yes | Yes | Yes |
| Hemolytic anemia | No | No | Yes | Yes |
| Hepatosplenomegaly | No | No | Yes | Yes |
| Stomatin-deficient | No | NK | NK | Yes |
| Monovalent cation leak | No | No | Yes | Yes |
| Ca2+ leak | No | No | Yes | No |
| RBC structure | Normal? | Normal? | Echinocytic | Stomatocytic |
| Cataracts | No | No | No | Yes |
| Cation leaky glut1 in blood/brain barrier | No | No | No | Possibly |
| Cation leaky glut1 in lens epithelium | No | No | No | Probably |
| Cation leaky glut1 in red cell membrane | No | No | Yes | Yes |
NK indicates not known; and RBC, red blood cell.