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Table 1 Metabolites in plasma and urine

From: Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

 

13 months measurement

15 months measurement

17 months measurement

24 months measurement

Ref. range

Acylcarnitine in plasma

 C5OH (μmol/L)

3.88

1.66

0.53

0.37

0.07–0.5

 C0 (μmol/L)

4.86

30.25

26.87

26.43

9.5–50

 C2 (μmol/L)

7.99

9.87

11.88

10.27

3.4–45

 C3 (μmol/L)

4.35

0.62

1.13

1.3

0.2–4.5

 C5OH/C0

0.80

0.055

0.02

0.01

0–0.02

 C5OH/C8

77.6

33.2

17.67

7.4

1.22–18

 C3/C2

0.54

0.063

0.095

0.13

0.01–0.2

 C3/C0

0.90

0.02

0.042

0.05

0.01–0.2

Organic acids in urine

3-methylcrotonylglycine (μmol/mmol creatinine)

24.70

0.00

0.00

0

3-hydroxyisovaleric acid (μmol/mmol creatinine)

3.63

3.00

1.46

0–2.3

methylcrotonylglycine (μmol/mmol creatinine)

17.51

0.00

0.00

0

acetylglycine

(μmol/mmol creatinine)

6.13

0.00

0.00

0–0.1

propionylglycine (μmol/mmol creatinine)

36.71

0.00

0.00

0

lactic acid

(μmol/mmol creatinine)

247.95

4.23

4.81

0–4.7

pyruvic acid

(μmol/mmol creatinine)

58.14

6.45

3.42

0–24.1

3-hydroxybutyric acid (μmol/mmol creatinine)

966.37

2.52

0.00

0–3.7

2-keto-3-methyl pentanoic acid (μmol/mmol creatinine)

6.16

0.00

0.00

0

2-keto-isocaproic acid (μmol/mmol creatinine)

6.16

0.00

0.00

0