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Table 1 Biochemical and molecular findings in 8 cases diagnosed with hyperlysinemia

From: Genetic basis of 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
  1. ND denotes not done.