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Table 1 Baseline lipid profiles, liver enzymes, and blood cell counts of 4 Chinese children with sitosterolemia

From: Features of chinese patients with sitosterolemia

  Normal values Patient no
1 2 3 4
Gender   F F F M
Mutationa (ABCG5)   c.904+1G>A
(p. Met302Asn fs*82)
c.1568 C>A (p.His510Asn)
c.130T>C (p.Ser44Pro)
c.1166G>A (p.Arg389His)
c.64 C>T (p.Gln22Ter)
c.1568 C>A (p.His510Asn)
c.751 C>T (p.Gln251Ter)
c.1166G>A (p.Arg389His)
Xanthomas   + - - +
Initial diagnostic data      
Age at onset   3y 3y5m 3 m 1y5m
Age at diagnosis   9 y 4y8m 8y 2y
Serum Sitosterol, µmol/L 1~15 506 156 187 120
Campesterol, µmol/L 0.01~10 110 41 130 58
Liver enzymes      
Alanine transaminase, U/L 3~35 13 473 16 17
Asparate aminotransferase, U/L 5~60 29 349 40 38
Cholesterol, mg/dL      
Total 112~221 543 183 398 329
Low-density-lipoprotein 47~131 395 146 315 296
Total triglycerides, mg/dL 40~160 121 194 92 122
Blood count      
Erythrocytes, count/µL (3.8~5.9)×109 4.4 3.7 4.0 4.8
Hemoglobin, g/dL 110~151 129 108 111 109
Mean corpuscular volume, fl. 80~97 83.5 90.3 83.3 71
White blood cells, count/ul 5~12 5.2 3.1 4.9 10.7
Platelets, count/mm3 (140~440)×106 230 211 279 270
After treatment      
Age at plant sterols analysis   11y 7y8m 10y10m 2y8m
Therapy   Cholestyramine +Diet Diet Cholestyramine +Diet Diet
Cholesterol, total mg/dL 112~221 190 200 181 398
Low-density-lipoprotein 47~131 96 128 100 340
Serum Sitosterol, µmol/L 1~15 236 117 61 120
Campesterol, µmol/L 0.01~10 59 177 73 58
  1. Abbreviations: NA not available, y year, m month
  2. + present, - absent
  3. a case2 combined with PYGL gene mutation