Skip to main content

Table 1 Laboratory tests performed on the patient. Results outside the reference interval are marked in bold

From: Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

Parameter

Value

Reference Range

Hemoglobin

10.8 g/dL

9.5–13 g/dL

MCV

84.9 fL

80–95 fL

White blood cell count

15.1 × 10^9/L

5–10 × 10^9/L

Platelet count

429 × 10^9/L

150–450 × 10^9/L

Sodium

132 mmol/L

135–145 mmol/L

Potassium

4.4 mmol/L

3.5-5 mmol/L

Blood urea nitrogen

8.6 mg/dL

5–18 mg/dL

Creatinine

0.51 mg/dL

0.3–0.7 mg/dL

Glucose

123 mg/dL

70–110 mg/dL

Triglyceride

111 mg/dL

60–160 mg/dL

Calcium

10.1 mg/dL

8.5–10.5 mg/dL

Phosphorus

4.7 mg/dL

4–7 mg/dL

Magnesium

2.2 mg/dL

1.7–2.4 mg/dL

Albumin

2.5 g/dL

3.5–5.5 g/dL

Alanine aminotransferase

74 U/L

< 40 U/L

Aspartate aminotransferase

163 U/L

< 40 U/L

Alkaline phosphatase

563 U/L

< 350 U/L

Lactate dehydrogenase

1600 U/L

200–500 U/L

Creatine kinase

498 U/L

24–195 U/L

Brain natriuretic peptide

11,800 pg/mL

< 100 pg/mL

Troponin I

0.22

< 0.04

C-reactive protein

20 mg/L

< 5 mg/L

Erythrocyte sedimentation rate

8 mm/hr

≤ 10 mm/hr

Arterial blood gas

pH 7.40

pH 7.35–7.45

pCO2 35.5 mmHg

pCO2 35–45 mmHg

pO2 43.7 mmHg

pO2 > 80 mmHg

HCO3 21.2 mmol/L

HCO3 22–26 mmol/L

O2 saturation 79.8%

O2 saturation > 95%