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Table 1 Lab test results of the affected member in the current family with PRKAG2 syndrome

From: Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature

Analysis

Result

Reference range

Alanine aminotransferase

13 IU/L

Up to 31 IU/L

Aspartate aminotransferase

63 IU/L

Up to 31 IU/L

Triglyceride

66 mg/dl

35–135 mg/dl

Cholesterol

136 mg/dl

130–200 mg/dl

LDH

1024 U/L

Up to 850 U/L

CpK

18 U/L

Female: 24–195 U/L

Hemoglobin

10.8 g/dl

12.1–15.1 g/dl

Hematocrit

34.6%

35.5–44.9%

Mean corpuscular volume

60.04 fl

80–96 fl

Low mean corpuscular hemoglobin

18.81 pg

27–33 pg

Platelet count

221,000/µL

150,000–450,000/µL