Preferred Label : Luft disease;
ICD-11 definition : Luft's disease is clinically characterized by hypermetabolism and consequent abnormal
transpiration. The hypermetabolism is caused by extensive uncoupling of mitochondrial
respiration in skeletal muscle tissue. Muscle mitochondria are structurally modified,
with the cristae assuming a zig-zag conformation. This damage is conceived to be caused
by a genetic defect preventing proper aggregation of the enzyme molecules in the cristae.;
Origin ID : 1863060210;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Luft's disease is clinically characterized by hypermetabolism and consequent abnormal
transpiration. The hypermetabolism is caused by extensive uncoupling of mitochondrial
respiration in skeletal muscle tissue. Muscle mitochondria are structurally modified,
with the cristae assuming a zig-zag conformation. This damage is conceived to be caused
by a genetic defect preventing proper aggregation of the enzyme molecules in the cristae.
