Table 1 The results of laboratory tests for core family members: the daughter with severe symptoms (Case 1), the son with mild-form symptoms (Case 2) and the parents

Hemoglobin (g/dL)

(8)

13

12

14

12–16

White blood cell (1000 × cell/dL)

(3.5)

9.0

6.0

8.5

4.0–11.0

Platelet (1000 × cell/dL)

(20)

240

210

200

150–400

Blood sugar (mg/dL)

82

88

86

282

74–110

Blood urea (mg/dL)

26

28

22

25

14–50

Serum creatinine (mg/dL)

1.1

1.0

1.1

1.3

0.2–1.2

Serum calcium (mg/dL)

8.1

9.5

8.2

9.2

8.1–10.4

Serum phosphorous (ng/dL)

4.0

3.0

2.8

2.7

2.5–5.0

Serum alkaline phosphate (IU/L)

261

515

284

218

100–320

Serum alanine transaminase (IU/L)

17

44

35

36

<45

Serum aspartate transaminase (IU/L)

30

45

40

38

<35

Total serum bilirubin (mg/dL)

1.0

0.4

0.4

0.7

0.2–1.2

Parathyroid hormone (pg/mL)

35

32

16

25

10–65

Serum lactate dehydrogenase (IU/mL)

416

246

200

206

150–500