Characteristics of Two Danish Families With PK Deficiency
| . | PK (U/g Hb) . | HK (U/g Hb) . | PK Mutation . | Amino Acid . | Polymorphisms . | |||
|---|---|---|---|---|---|---|---|---|
| . | . | . | . | . | IVS-5 . | Repeats . | nt 1705 . | nt 1738 . |
| Family 1 | ||||||||
| Proband | 1.3 | 5.9 | 1091G→A/1529G→A | 364Gly→Asp/510Arg→Gln | C/T | 12/14 | A/C | C/T |
| Mother (B5) | 6.0 | 1.15 | 1091G→A | 364Gly→Asp | C/T | 12/14 | A/C | C/T |
| Father 1 (A4) | 5.0 | 0.97 | 1529G→A | 510Arg→Gln | C/T | 14/15 | C/C | T/T |
| Father 2 (C3) | 6.4 | 1.2 | 1091G→A | 364Gly→Asp | C/T | 12/15 | A/C | C/T |
| Daughter | — * | — | 1091G→A/1091G→A | 364Gly→Asp/364Gly→Asp | C/C | 12/12 | A/A | C/C |
| Family 2 | ||||||||
| Father | 5.4 | 2.9 | 1091G→A | 364Gly→Asp | C/T | 12/15 | A/C | C/T |
| Mother | 8.1 | 1.7 | 1529G→A | 510Arg→Gln | T/T | 14/14 | C/C | T/T |
| Daughter | 2.8 | 4.2 | 1091G→A/1529G→A | 364Gly→Asp/510Arg→Gln | C/T | 12/14 | A/C | C/T |
| Son | — | — | 1091G→A/1529G→A | 364Gly→Asp/510Arg→Gln | C/T | 12/14 | A/C | C/T |
| Reference | 8.4-14.4 | 1.1-1.8 | ||||||
| . | PK (U/g Hb) . | HK (U/g Hb) . | PK Mutation . | Amino Acid . | Polymorphisms . | |||
|---|---|---|---|---|---|---|---|---|
| . | . | . | . | . | IVS-5 . | Repeats . | nt 1705 . | nt 1738 . |
| Family 1 | ||||||||
| Proband | 1.3 | 5.9 | 1091G→A/1529G→A | 364Gly→Asp/510Arg→Gln | C/T | 12/14 | A/C | C/T |
| Mother (B5) | 6.0 | 1.15 | 1091G→A | 364Gly→Asp | C/T | 12/14 | A/C | C/T |
| Father 1 (A4) | 5.0 | 0.97 | 1529G→A | 510Arg→Gln | C/T | 14/15 | C/C | T/T |
| Father 2 (C3) | 6.4 | 1.2 | 1091G→A | 364Gly→Asp | C/T | 12/15 | A/C | C/T |
| Daughter | — * | — | 1091G→A/1091G→A | 364Gly→Asp/364Gly→Asp | C/C | 12/12 | A/A | C/C |
| Family 2 | ||||||||
| Father | 5.4 | 2.9 | 1091G→A | 364Gly→Asp | C/T | 12/15 | A/C | C/T |
| Mother | 8.1 | 1.7 | 1529G→A | 510Arg→Gln | T/T | 14/14 | C/C | T/T |
| Daughter | 2.8 | 4.2 | 1091G→A/1529G→A | 364Gly→Asp/510Arg→Gln | C/T | 12/14 | A/C | C/T |
| Son | — | — | 1091G→A/1529G→A | 364Gly→Asp/510Arg→Gln | C/T | 12/14 | A/C | C/T |
| Reference | 8.4-14.4 | 1.1-1.8 | ||||||
Abbreviations: PK, pyruvate kinase; HK, hexokinase; IVS-5, polymorphism at nt 51 in intervening sequence-5.
No sample available.