Table 2 Laboratory and imaging results for two patients with infantile-onset lysosomal acid lipase deficiency treated with enzyme replacement therapy (ERT)
Laboratory/imaging results in relation to ERT | Albumin (g/dl) (normal range for age)/SI units (g/L) | AST (U/L) (normal range for age)/SI units (μkat/L) | ALT (U/L) (normal range for age)/SI units (μkat/L) | GGTP (IU/L) (normal range for age)/SI units (μkat/L) | Ferritin (ng/ml) (normal range for age)/SI units (pmol/L) | PT (secs) (normal range) | PTT (secs) (normal range) | INR | Total cholesterol (mg/dL) (normal range for age)/SI units (mmol/L) | TG (mg/dL) (normal range for age)/SI units (mmol/L) | LDL (mg/dL) (normal range for age)/SI units (mmol/L) | HDL (mg/dL) (normal range for age)/SI units (mmol/L) | Liver size (cm) | Spleen volume (ml) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient #1 | prior to ERT | 4.4 (3.1–4.2)/44 | 141 (20–64)/2.35 | 59 (12–42)/0.99 | 22/0.37 | 45.1 (10–112)/101.34 | 13.5 (11.6–13.8) | 28.3 (22–36) | 1.08 | 173 (45–182)/4.48 | 190 (27–125)/2.15 | 117 (63–129)/3.03 | 18 (35–82)/0.47 | 11.9b | 35b |
after 3 months ERT | 4.4 (3.3–4.3)/44 | 107 (20–64)/1.79 | 36 (12–42)/0.60 | 26.5 (10–112)/59.55 | 13.5 (11.6–13.8) | 29.2 (22–36) | 1.08 | 185 (45–182)/4.79 | 95 (27–125)/1.07 | 141 (63–129)/3.65 | 25 (35–82)/0.65 | ||||
after 12 months ERT | 3.6 (3.5–4.6)/36 | 81 (20–60)/1.35 | 48 (5–45)/0.80 | 19.4 (10–70)/43.59 | 13.9 (11.6–13.8) | 1.11 | 238 (45–182)/6.16 | 129 (27–125)/1.46 | 191 (63–129)/4.95 | 21 (35–82)/0.54 | 12.4b | 43b | |||
after 18 months ERT | 3.8 (3.5–4.6)/38 | 91 (20–60)/1.52 | 56 (5–45)/0.94 | 15.5 (10–70)/34.83 | 11.8 (10.9–13.4) | 30.1a (22–36) | 0.97 | 141a (45–182)/3.65 | 221a (27–125)/2.50 | 86a (63–129)/2.23 | 11a (35–82)/0.28 | ||||
after 22 months ERT | 4.0 (3.5–4.6)/40 | 58 (20–60)/0.97 | 40 (5–45)/0.67 | 13.5 (10–99.9)/30.33 | 128 (45–182)/3.32 | 99 (27–125)/1.12 | 89 (63–129)/2.31 | 19 (35–82)/0.49 | |||||||
Patient #2 | prior to ERT | 2.5 (3.4–4.2)/25 | 189 (0–120)/3.16 | 62 (0–28)/1.04 | 453 (6–19)/7.57 | 7640 (9–120)/17,167.08 | 13.6 | 25.2 | 1.04 | 224 (0–200)/5.80 | 593 (60–160)/6.70 | TG result too high for accurate LDL estimation; LDL direct: 95 (0–159)/2.46 | 34 (35–150)/0.88 | 10c | 157c |
after 3 months ERT | 3.7 (3.4–4.2)/37 | 61 (20–60)/1.02 | 54 (5–45)/0.90 | 290 (6–19)/4.84 | 39.90 (9–120)/89.66 | 14.4 | 33.9 | 1.11 | 167 (0–200)/4.33 | 114 (60–160)/1.29 | 126 (0–129)/3.26 | 18 (35–150)/0.47 | |||
after 12 months ERT | 3.9 (3.4–4.2)/39 | 55 (20–60)/0.92 | 58 (5–45)/0.97 | 97 (6–19)/1.62 | 21.8 (9–120)/48.98 | 14.4 (12.2–14.4) | 27.1 | 1.11 | 191 (0–200)/4.95 | 159 (60–160)/1.80 | 139 (0–129)/3.60 | 20 (35–150)/0.52 | 8.6c | 127c |