Luft Disease

Luft disease is a very rare mitochondrial condition with only two reported cases.  Mitochondria are the parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important in the communication between body parts and creating other materials the body needs. Mitochondrial conditions can cause a variety of signs and symptoms in many parts of the body, particularly those that use a lot of energy like muscles and the brain. People with Luft disease had changes in the way mitochondria were structured in their skeletal muscles.

Luft’s disease; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1; HUMOP1

The cause of Luft disease is not known. Luft disease appears to be a type of mitochondrial condition, which can be inherited (passed down in families) in several ways. Neither person with Luft disease had a family history of the condition, or had parents who were closely related by blood (consanguinity). Genetic testing was not available when the two known patients with Luft disease were diagnosed.

Luft disease caused uncoupling of mitochondrial respiration in skeletal muscles. This also caused the structure of mitochondria in the skeletal muscle to change into a zig-zag pattern.

Only two cases of Luft disease have been described in the scientific literature.

Not Applicable

The two reported patients with Luft disease had the following signs and symptoms:

• Hypermetabolism (an increase in the amount of energy needed to perform bodily functions)
• Fever
• Heat intolerance
• Extreme sweating
• Extreme hunger (polyphagia) with poor weight gain
• Extreme thirst (polydipsia)
• Abnormal findings on muscle biopsy
• An increased heart rate (tachycardia)
• Rapid breathing (tachypnea)
• Mild muscle weakness
• Increased heart output
• Irregular menstrual cycle
• Loss of hair
• Skin lesions

Luft disease was diagnosed in the two confirmed cases by careful physical examination, testing on muscle tissue and testing on blood. Genetic testing was not available when the patients were living.

Luft disease is not included on newborn screening panels.

No

Before beginning any treatment or therapy, please consult with your physician.

There is currently no FDA-approved therapy for Luft disease.

• ScienceDirect Topics — Luft Disease – an overview

Connecting with others impacted by a rare disease allows for vital information to be shared about day-to-day life, prevents isolation, and gives hope. Please contact MitoAction for peer support opportunities at 888-MITO-411 or email mito411@mitoaction.org.

Other resources we recommend are:

• New Patient Kit for Mitochondrial Conditions
• Planning and Preparation
• Monthly Expert Series
• Energy in Action Podcast