Skip to main content

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