Metabolic characteristics of S1, S2, and S3 and prepubertal P467L carriers

56-year-old female, P467L*32-year-old male, P467L21-year-old female, V290M9-year-old female, P467L3-year-old male, P467LReference values
Glucose (mmol/l)6.0109.–6.3
Insulin (pmol/l)2968541112485<80 (adults)
Triglycerides (mmol/l), <2.0
Total cholesterol (mmol/l), <5.2
HDL cholesterol (mmol/l)0.90.720.60.841.05Desirable, >1.0
NEFAs (μmol/l)721503558280–920
Uric acid (mmol/l)0.290.350.370.15–0.35
Alanine aminotransferase (units/l)70853929330–50
γ-Glutamyl transferase (units/l)4546814718200–50
  • *

    * S1 is on hormone replacement therapy.

  • Reference values for fasting insulin in children: healthy 9-year-old subjects (n = 50, mean ± SE): 42.8 ± 5.7; healthy 3-year-old subjects (n = 14): 18.7 ± 1.6 (D.A. Dunger, K. Ong, personal communication).