Table 3.
Patient ID | Gender | Mutation |
Age at Aug. 2019 | Age of onset | Symptoms at onset | Treatment | |
---|---|---|---|---|---|---|---|
nucleic acid | amino acid | ||||||
1 | M | c.2 T > A | p.M1K | 10y2m | 3y | hypohidrosis, extremity pain at bath | ERT from 5y |
3 | M | c.128G > A | p.G43D | 6y7m | 5y | delayed enhanced cardiac MRI, Mulberry cells in urinary sediment | ERT from 6y |
53 | M | c.1072_1074 delGAG |
p.E358del | 9y10m | 4y | extremity pain, hypohidrosis | ERT from 6y, carbamazepine from 8y |