Table 2.
Features | Patient W112 | Patient W311 |
---|---|---|
GENOTYPIC | ||
COMMD1 | c.492 GAT/GAC (heterozygous) | c.492 GAT/GAC (heterozygous) |
ATP7B | c.2495_2496insG/c.2298_2299insC | Not determined |
PHENOTYPIC | ||
Age of onset (yrs) | 12 | 12 |
KF ring | + | + |
Liver involvement | History of jaundice | Not apparent |
Ceruloplasmin | 5 mg/dl | 5.5 mg/dl |
24 hrs Urinary copper | 98 μg | 170 μg |
Extrapyramidal features | Dystonia, dysarthia, tremor in upper limbs | |
Liver function test (albumin:globulin; normal:1.7-1.9) | 0.85 | 1.4 |