Table 1 Lab test results of the proband in the current case with CTX
From: Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report
Analysis | Lab results | Reference range | ||
|---|---|---|---|---|
(1 years-old) | (5 years-old) | (7.5 years-old) | ||
Fasting blood sugar | 78 mg/dl | 91 mg/dl | 76 mg/dl | 70–99 mg/dl |
Alanine aminotransferase | 10 IU/L | 12 IU/L | 12 IU/L | Up to 31 IU/L |
Aspartate aminotransferase | 8 IU/L | 10 IU/L | 10 IU/L | Up to 31 IU/L |
Triglyceride | 142 mg/dl | 199 mg/dl | 145 mg/dl | 40–160 mg/dl |
Cholesterol | 195 mg/dl | 184 mg/dl | 135 mg/dl | 130–200 mg/dl |
LDL | 105 mg/dl | 68 mg/dl | 32 mg/dl | 0–160 mg/dl |
HDL | 49 mg/dl | 55 mg/dl | 49 mg/dl | 40–60 mg/dl |
Uric acid | 2.1 mg/dl | 5.5 mg/dl | 3.1 mg/dl | 3.4–7 mg/dl |
BUN | 11 mg/dL | 7 mg/dL | – | 5–17 mg/dL |
Total protein | 7.3 g/dl | 4.2 g/dl | 7.7 g/dl/ | 4.1–7.9 g/dl |
Creatinine | 0.43 mg/dL | 0.48 mg/dL | – | 0.31–0.6 mg/dL |
Lactate | – | 27 mg/dL | – | Plasma:4.5–19.8 mg/dL |
Homocysteine | – | 21.7 μmol/L | – | < 10 μmol/L |
Potassium | 4.1 m.Eq/L | 4.8 m.Eq/L | – | 3.5–5.6 m.Eq/L |
Sodium | 139 m.Eq/L | 139 m.Eq/L | – | 135–145 m.Eq/L |