TABLE 1

Body composition details

56-year-old female, P467L (S1)32-year-old male, P467L (S2)21-year-old female, V290M (S3)Healthy adult ranges
Height (m)1.531.721.64
Weight (kg)57.173.875.8
BMI (kg/m2)24.424.928.118.5–24.9 (44)
Predicted total body fat (%)*29.022.034.5
Measured total body fat (%)17.610.625.5S1: 23–34%
S2: 8–20%
S3: 33–39% (45)
Waist-to-hip ratio1.10.910.99Female <0.85
Male <1.0
Visceral fat-to-total abdominal fat ratio0.280.440.39Female 0.25 ± 0.14
Male 0.42 ± 0.11 (46)
Fatty liver+++
IMTGs expressed as IMTG-to-creatine ratio for soleus muscle13.79.7Mean ± SE in 76 control subjects = 13.6 ± 6.6 (E.L.T., J.D.B., unpublished data)
  • *

    * Predicted body fat was calculated as follows (47): men % fat = (1.281 × BMI) − 10.13; women % fat = (1.48 × BMI) − 7.00.

  • The diagnosis of fatty liver (+) was made on the basis of an echo-bright ultrasound picture in the absence of a history of alcohol consumption in excess of 40 g per week. Steatosis and cirrhosis were confirmed histologically in S1.