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Table 1 Metabolic study at different times in the patient's life and after 18 h of fasting

From: Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Age 7 Months (no acidosis) 10 Months (no acidosis) 15 Months (no acidosis) 15 Months, 18 h of fasting
Urine organic acids (mmol/mol creatinine)
3-Hydroxy butyrate (NV: 2–17) 158 1114 284 15,471
Acetoacetate (NV: 0–7) 117 792 20 9342
Lactate (NV: 5–113) 9312 359 28 23,846
2-Hydroxy butyrate(NV: 0–4) 380 273 15 11,944
3-Hydroxy isovalerate (NV: 1–40) 56 56 19 315
Plasma amino acids (μmol/L)
Alanine (NV: 297 ± 96) 435 230 329 124
Others Normal Normal Normal Elevation of BCAA due to severe ketosis
Plasma acylcarnitines μmol/L
  Normal Normal Normal Mild elevation of C12–C14 due to ketosis
  1. NV normal value, C12 dodecanoylcarnitine, C14 myristoylcarnitine, BCAA branched-chain amino acids