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

Gender

F

F

F

M

Mutation^a (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)×10^∧9

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)×10^∧6

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