From: Infantile Pompe disease with intrauterine onset: a case report and literature review
Patient No | Sex | GA/EFW at PE (weeks/kg) | GA at birth (weeks) | Laboratory results at birth (U/L) | GAA enzymatic activity (Assay site) | GAA mutations | Age at the first ERT | Survival time or FU duration | Respiratory support |
---|---|---|---|---|---|---|---|---|---|
1 | M | 32/2.7 | 35 | AST,89 LDH, 457 CK,1199 | Lymphocytes, 0.28 (normal: 4.8–13.3) μkat/kg | 1327-2A > G (GAA inro 8) | 18 h | Alive at 30 months | No |
2 | M | 34/3.7 | 40 | AST, 208 LDH, 994 CK,3685 | Leukocytes, 3.7 (normal: 51–215) nmol/h/mg | 1327-2A > G (GAA inro 8) | 14 days | Died at 19 months | No |
3 | F | 27/3.8 | 40 | AST, 230 LDH, 1255 CK, 2381 | Dried blood, 0.13 (normal: 7.3–39.0) pmol/punch/h | 340insT (GAA ex 2–2) | 2 h | Alive at 4 months | No |
4 | F | Not given | Full term | Not given | 4 (normal: 24–94) pmoles/h/spot | c.1441 T > C (p.W481R) c.2481 + 109_c.2646 + 38del538 | 2 months | Alive at 14 months | Yes |
5 | F | 31/3.50 | 38 | BNP, 778 (pg/mL) | Not given | c.2560C > T(p. Arg854X) | 2 days | Alive at 50 months | Yes |
6 | F | 30/4.56 | 38 | CK, 478 | 1.8 (control: 10–49) pmol/punch/h | c.525delT and c.1927 G > A (p.Gly643Arg) | None | Alive at 1.5 months | No |
7 | F | 38/4.09 | 40 | AST, 129 LDH, 1050 CK, 3594 | 0.31 (normal: 1.46–20.34) µmol/L/h | c.1844G > T(p.Gly615Val) GAA exon 13) | None | Died at 7 months | Yes |