Luft Disease, also known as Glucose Transport Protein Deficiency Syndrome (GTPD), is a rare metabolic disorder characterized by a deficiency of glucose transport proteins in the cell membranes. Named after German physician Ernst R. Luft, who first described the condition in 1973, it falls under the broader category of glycogen storage diseases (GSDs).
In individuals affected by Luft Disease, the absence or dysfunction of glucose transport proteins impairs the transportation of glucose molecules inside cells, resulting in an inability to effectively utilize glucose for energy production. As a consequence, alternative energy sources, such as lipids and proteins, are utilized excessively in order to maintain cellular functions, leading to abnormal accumulation of glycogen in various organs, particularly the liver, heart, and skeletal muscles.
The clinical presentation of Luft Disease varies depending on the severity and specific organs affected, but common symptoms may include abnormal liver function, hepatomegaly (enlarged liver), cardiomegaly (enlarged heart), hypoglycemia (low blood sugar), muscle weakness, exercise intolerance, and growth retardation. In severe cases, the condition can lead to cardiomyopathy, liver cirrhosis, or even early death.
Diagnosis of Luft Disease is typically confirmed through genetic testing, which identifies mutations in the responsible SLC2A2 gene located on chromosome 3. Treatment mainly revolves around dietary management to ensure a steady supply of glucose and prevent hypoglycemia. Assisted feeding, frequent meals, and a high complex carbohydrate diet can help manage symptoms to some extent.
Due to its rarity and genetic nature, Lufty Disease requires focused medical supervision and supportive care from healthcare professionals experienced in the management of glycogen storage diseases.
