Characteristics of Three Unrelated TPI-Deficient Patients
| Subject . | Age (yr) . | Codon Mutation . | RBC TPI Activity (IU/g Hb) . | RBC DHAP Level (nmol/g Hb) . | Symptoms From Birth to Date . | ||
|---|---|---|---|---|---|---|---|
| Jaundice . | Hemolytic Anemia . | Neuromuscular Dysfunction . | |||||
| A | 4 | 104/104 | 138 | 1,750 | Yes | Yes | Yes |
| B | 8 | 104/41 | 330 | 600 | Yes | Yes | Yes |
| C | 13 | 104/170 | 64 | 3,772 | Yes | Yes | No |
| Normal | — | — | 810-1,423 | 26-48 | — | — | — |
| Subject . | Age (yr) . | Codon Mutation . | RBC TPI Activity (IU/g Hb) . | RBC DHAP Level (nmol/g Hb) . | Symptoms From Birth to Date . | ||
|---|---|---|---|---|---|---|---|
| Jaundice . | Hemolytic Anemia . | Neuromuscular Dysfunction . | |||||
| A | 4 | 104/104 | 138 | 1,750 | Yes | Yes | Yes |
| B | 8 | 104/41 | 330 | 600 | Yes | Yes | Yes |
| C | 13 | 104/170 | 64 | 3,772 | Yes | Yes | No |
| Normal | — | — | 810-1,423 | 26-48 | — | — | — |
Abbreviations: RBC, red blood cell; Hb, hemoglobin.