Table 1 Biochemical and molecular findings in 8 cases diagnosed with hyperlysinemia
Case | Plasma lysine (μmol/L) | AASS immunoblot | Allele 1 (coding effect) | Allele 2 (coding effect) |
|---|---|---|---|---|
1 | 992 – 1688 | Undetectable | c.194G>A (p.R65Q) | c.1256T>G (p.L419R) |
2 | 787 – 1253 | ND | c.194G>A (p.R65Q) | c.1256T>G (p.L419R) |
3 | 1090 – 1326 | Undetectable | c.194G>A (p.R65Q) | c.194G>A (p.R65Q) |
4 | 868 – 1461 | Undetectable | Deletion of exon 1 (no mRNA) | Deletion of exon 1 (no mRNA) |
5 | 1554 | Decreased | c.460G>A (p.A154T) | c.2076dup (p.P693SfsX10) |
6 | 1054 – 1303 | ND | c.2155A>G (p.T719A) | c.2155A>G (p.T719A) |
7 | 2029 | Undetectable | Deletion of exon 20-24 | Deletion of exon 20-24 |
8 | 602 | Undetectable | Deletion of exon 20-24 | Deletion of exon 20-24 |