A syndrome characterised by severe hypermetabolism, heat intolerance, profuse perspiration, polyphagia, polydipsia without polyuria, muscular wasting and weakness, absent deep reflexes, and resting tachycardia. It is caused by mitochondrial abnormality. At the cellular level, their mitochondria respire wildly and waste the excess energy as heat, elevation of body temperature up to 38,4 °C, tendon reflexes absent. There is progressive weight loss despite increased food intake. Thyroid function is normal. Onset in childhood. Aetiology unknown.
Luft discovered "his" disease in a 35 year old woman who was admitted to the clinic with a disease picture was "not according to the book". From the age of seven she had suffered from profuse sweating that forced her to change clothes about ten times a day. To compensate the loss of liquid she had to drink many litres every day. Her calory intake was about 3 500 calories a day, approximately the need for a manual labourer, despite a body weight of only 40 kilo. Her basal metabolism was 200 percent. Laboratory tests showed small deviations from the normal picture, with the exception of her blood volume, which was about twice as large as normal, as well as the total amount of haemoglobin. There was also an increase in cretin excretion.
- Rolf Luft, Denis Ikkos, Genaro Palmieri, Lars Ernster, Björn Afzelius:
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control : a correlated clinical, biochemical, and morphological study.
Journal of Clinical Investigation, New York, 1962; 41: 1776-1804.
The first description of a mitochondrial disease.