Skip to main content

Table 1 Medical history timeline during the first 1.8 years of life and biochemical and hormonal values

From: Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report

Chronologic Age(years)

40 + 3 weeks of GA (Birth)

46 + 6 weeks of GA (First hospitalization)

0.17(First discharge)

0.22 (Second hospitalization)

0.27 (Second discharge)

0.39

0.65

0.94

1.36

1.75 (Death)

Length(cm)

/

61

/

64

/

64.6

68

70

75

76

Weight(Kg)

3.3

3.5

/

4.3

4.8

6.2

8

8.3

9.6

10.4

Head Circumference(cm)

/

/

/

/

/

/

/

/

/

/

ACTH(7.2–63.6 pg/ml)

/

/

15.04

8.76

72.83

4.48

3.42

3.86

2.36

/

Cortisol(66–630 nmol/L)

/

/

647.9

874.4

12.72

29.88

11.57

6.41

7.64

/

LH(1.5–12.4 IU/L)

/

/

/

7.23

/

/

/

1.76

0.46

/

FSH(0.1–5.4 IU/L)

/

/

/

13.93

/

/

/

0.73

0.1

/

E2(18-73 pmol/L)

/

/

/

18.4

/

/

/

18.4

57.1

/

P(0.7–4.3 nmol/L)

/

/

/

0.1

/

/

/

0.1

0.65

/

T(0.1–1.12 nmol/L)

/

/

/

13.03

/

/

/

0.09

0.09

/

PRL(106–713 mIU/L)

/

/

/

518.3

/

/

/

131.6

243.6

/

17-α-OHP(0–1.54 ng/ml)

/

/

0.48

0.52

/

/

/

/

/

/

ALT(0–40 U/L)

/

141.1

62.8

115

138

233

153

181

183

439

AST(0–40 U/L)

/

88.8

53.3

121

173

253

163

206

212

1078

ALP(147.7–309.3 U/L)

/

50.7

147.2

247

252

210

149

155

123

140.8

CK(16.5–211.5 U/L)

/

1584

621

2620

6771

11,622

10,680

13,512

9822

26,055.3

CK-MB(15–80 U/L)

/

203.1

97

254

343

540

520

538

549

2353

LDH(67–394.1 U/L)

/

402.3

367.4

/

617

959

815

956

946

2440.4

LDH-MB(30–120 U/L)

/

125.4

64.9

/

88

116

97

101

110

165.2

TCHOL(3.12–5.2 mmol/L)

/

/

/

4.86

5.18

4.76

4.28

4.46

4.53

/

α-HBDH(75.5–211.5 U/L)

/

314

255.2

300

447

631

545

624

617

1560.9

TG(0.8–1.8 mmol/L)

/

/

/

12.01

8.87

4.76

6.71

6.09

4.53

/

Apo-A(1–1.6 g/L)

/

/

/

1.67

1.45

1.68

1.43

1.65

1.74

/

Apo-B(0.6–1.1 g/L)

/

/

/

0.6

0.8

0.67

0.6

0.49

0.61

/

Na(135–145 mmol/L)

/

133

130.4

132

136

139

142

141

143

140.8

K (3.5–5.5 mmol/L)

/

4.6

5.1

6.7

6.6

5

4.4

3.7

4.2

5.7

Ca(2.2–2.7 mmol/L)

/

2.39

2.33

2.86

2.68

2.62

2.53

2.34

2.32

1.97

Mg(0.6–0.95 mmol/L)

/

0.74

0.7

0.81

0.89

0.88

0.79

0.78

0.9

1.26

Cl(96–106 mmol/L)

/

110.7

97.6

94

96

101

102

103

101

98

Phosphorus(1.45–2.1 mmol/L)

/

1.08

1.54

2.11

2.45

2.16

1.84

1.76

1.78

3.48

Lac(0.5–2.2 mmol/L)

/

1

2.5

4.2

/

/

/

/

/

10.1

Glu(3.9–5.8 mmol/L)

/

3.27

4.5

4.1

5.4

/

3.6

/

/

1.7

Medication

 

given hydrocortisone acetate intravenously, 5 mg, q8h + oral fludrocortisone, 0.1 mg/d

oral hydrocortisone acetate, 5 mg in the morning, 2.5 mg at noon and 2.5 mg at night + oral fludrocortisone, 0.1 mg/d + salt supplementation 2 g/day

oral hydrocortisone acetate, 5 mg- 2.5 mg- 2.5 mg + oral fludrocortisone, 0.1 mg/d + salt supplementation 2 g/day

same as the previous

oral hydrocortisone acetate, 2 mg- 2 mg- 2 mg + oral fludrocortisone, 0.1 mg/d + salt supplementation 2 g/day

same as the previous

same as the previous

same as the previous

/

  1. GA Gestational age, ACTH Adrenocorticotropic hormone, LH Luteinizing hormone, FSH Follicle stimulating hormone, E2 Estradiol, P Progesterone, T Testosterone, PRL Prolactin, 17-α-OHP 17-alpha hydroxyprogesterone, ALT Alanine transaminases, AST Aspartate transaminases, ALP Alkaline phosphatase, CK Creatine kinase, CK-MB Creatine kinase isoenzyme, LDH Lactate dehydrogenase, LDH-MB Lactate dehydrogenase isoenzyme, TCHOL Total cholesterol, α-HBDH α-hydroxybutyrate, TG Triglycerides, Na Sodium, K Potassium, Ca Calcium, Mg Magnesium, Cl Chlorine, Lac Lactic acid, Glu Glucose