Table 1

Glucose homeostasis, ketone bodies, and additional laboratory findings for the three patients described in this study

PatientGlucoseKetone bodiesAdditional findings
Patient 1: boy, 13 years old
  • Normal fasting tolerance. Numerous blood gases taken every month for several years, and blood glucose has always been normal.

  • A microdialysis investigation of tissue glucose, glycerol, pyruvate, and lactate at the age of 3 years, with determined metabolite levels every 30th min for 24 h, gave tissue glucose variation between 3.5 (during night) and 5.5 (daytime) mmol/L.

  • A 24 h blood glucose profile at 10 years of age was also performed with samples before meals, 90 min after meals, and twice during nighttime, which gave fasting glucose 5.1 and peak glucose at 1700 h of 7.1 mmol/L.

  • Recently, fasting glucose of 4.3 and 4.7 mmol/L was measured with corresponding fasting insulin of 4.8 and 4.3 μU/mL.

  • HbA1c 26–28 mmol/mol (reference: 28–39) corresponding to 4.5–4.7% NGSP, 83–89 mg/dL eAG, and 4.6–4.9 mmol/L eAG.

At the age of 11 years, fasting β-ketones in blood were 0.5 mmol/L (reference: <0.6 mmol/L). No increased excretion of ketones in urine.
  • Free fatty acids have not been analyzed. However, fasting glycerol normal with 0.2 mmol/L (reference: 0.02–0.37) and triglycerides also normal.

  • Total cholesterol mostly normal, once elevated to 6.2 mmol/L (reference: 2.9–6.0).

  • HDL 0.8 mmol/L (reference: 0.84–1.9)

  • LDL 4.4 mmol/L (reference: 1.1–3.6)

  • LDL/HDL ratio 5.5 (reference: <5.0)

  • Fasting acylcarnitine and fasting carnitine normal.

  • Cobalamin, folic acid, homocysteine, and methylmalonic acid were all normal.

  • Serum creatinine low in many analyses, with the most recent 27 mmol/L (reference: 44–90).

Patient 2: girl, 9 years old
  • Normal fasting glucose tolerance. Numerous samples taken every month for several years, and blood glucose has always been normal.

  • A 24 h glucose profile at 5 years of age with samples before meals, 90 min after meals, and twice during nighttime showed a normal variation with fasting glucose 4.8 and peak level 5.6 mmol/L after lunch.

  • More recently, fasting glucose 4.9 and 4.4 mmol/L with corresponding fasting insulin 6.1 and 2.6 μU/mL taken on different days.

  • HbA1c 28–30 mmol/mol (reference: 28–39) corresponding to 4.7–4.9% NGSP, 89–92 mg/dL eAG, and 4.9–5.2 mmol/L eAG.

Two years ago, fasting β-ketones 0.6 (reference: <0.6). No increased urinary excretion. Lactate at the same time was 5.4 mmol/L and glucose 4.4 mmol/L.
  • Fasting glycerol 0.13 mmol/L (reference: 0.02–0.37).

  • Triglycerides normal, 1.42 mmol/L (reference: 0.42–2.7)

  • Total cholesterol 3.8 mmol/L (reference: 2.9–6.0)

  • HDL 0.99 mmol/L (reference: 0.84–1.9)

  • LDL 2.6 mmol/L (reference: 1.1–3.6)

  • LDL/HDL ratio 2.6 (reference: <5.0)

  • Fasting acylcarnitine and fasting carnitine normal.

  • Cobalamin, folic acid, homocysteine, and methylmalonic acid were all normal.

  • Serum creatinine low in many analyses, the most recent 24 mmol/L (reference: 31–70)

Patient 3: boy, 4 years old
  • Glucose levels in numerous samples over the years have been normal. A continuous glucose monitoring test was performed for 5 days, and glucose variations remained within normal reference values.

  • HbA1c 29 mmol/mol (reference: 28–39) corresponding to 4.8% NGSP, 91 mg/dL eAG, and 5.1 mmol/L eAG.

No increased urinary excretion.
  • Triglycerides normal, 1.26 mmol/L (reference: 0.42–2.7)

  • Total cholesterol 3.6 mmol/L (reference: 2.9–6.0)

  • HDL 0.79 mmol/L (reference: 0.84–1.9)

  • LDL 2.3 mmol/L (reference: 1.1–3.6)

  • LDL/HDL ratio 2.9 (reference: <5.0)

  • Fasting acylcarnitine and fasting carnitine normal.

  • Cobalamin, folic acid, homocysteine, and methylmalonic acid were all normal.

  • Serum creatinine low as in his siblings, 16 mmol/L (reference: 31–70)

  • The table summarizes current laboratory findings for the three patients as assessed during continuous treatment with DCA and methionine. Normal reference values are given in parentheses. eAG, estimated average glucose; NGSP, National Glycohemoglobin Standardization Program.