Table 1 Comprehensive evaluation of 14 patients with molecular confirmation of GD
From: GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
Pt | DBS value (pmol/punch−1/h−1) | Conventional enzymatic assay | Lyso-Gb1 (ng/mL) | Genotype | Phenotype | |
|---|---|---|---|---|---|---|
Leucocytes (nmol/mg/h) | Lymphoblasts (nmol/mg/h) | |||||
1 | 1.10 | 1.20 | 0.40 | 1921.9 | p.Leu483Pro/p.Asp448His | GD3 |
2 | 1.19 | 1.30 | NA | NA | p.Leu483Pro/p.Leu483Pro | GD3 |
3 | 0.00 | 1.50 | NA | NA | c.115+1G>A/p.Asn227Ser | GD1 |
4 | 0.70 | 1.80 | NA | 2538.3 | p.Asn409Ser/c.115+1G>A | GD1 |
5 | 0.90 | 0.90 | NA | 1087 | p.Asn409Ser/G202R | GD1 |
6 | 3.50 | 7.2 | NA | 441 | p.Asn409Ser/p.Leu483Pro | GD1 |
7 | 0.60 | NA | 1.07 | 546.8 | p.Asn409Ser/p.Asn409Ser | GD1 |
8 | 1.19 | NA | 2.90 | NA | p.Ser310Gly/p.Gly234Trp | GD1 |
9 | 1.30 | 4.00 | NA | 1017.5 | p.Asn409Ser/p.Asn409Ser | GD1 |
10 | 1.40 | 1.50 | NA | NA | p.P138Lfs*62/p.Asn409Ser | GD1 |
11 | 1.30 | NA | NA | NA | p.Asn409Ser/p.Asn409Ser | GD1 |
12 | 0.90 | NA | 0.50 | 328 | p.Asn409Ser/p.Arg86* | GD1 |
13 | 0.67 | NA | NA | NA | p.Asn409Ser/p.Leu483Pro | GD1 |
14 | 3.15 | NA | NA | 1255.9 | c.115+1G>A/p.Asn409Ser | GD1 |