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Table 2 Laboratory and imaging results for two patients with infantile-onset lysosomal acid lipase deficiency treated with enzyme replacement therapy (ERT)

From: Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

  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
  1. AST Aspartate aminotransferase, ALT Alanine aminotransferase, GGTP Gamma glutamyl transpeptidase, PT Prothrombin time, PTT Partial thromboplastin time, TG Triglycerides, LDL Low-density lipoprotein, HDL High-density lipoprotein,aAfter 15 months of ERT, bbased on MRI, cbased on ultrasound