Brain and skeletal muscle bioenergetic failure in familial hypobetalipoproteinaemia.

Objective: To determine whether a multisystemic bioenergetic deficit is an underlying feature of familial hypobetalipoproteinaemia.

Methods: Brain and skeletal muscle bioenergetics were studied by in vivo phosphorus MR spectroscopy (31P-MRS) in two neurologically affected members (mother and son) and in one asymptomatic member (daughter) of a kindred with familial hypobetalipoproteinaemia. Plasma concentrations of vitamin E and coenzyme Q10 (CoQ10) were also assessed.