What is Hartnup's disease?
Hartnup's disease is a rare genetic disorder that affects the metabolism of important vitamins in the body. Most people with disease have only minor deficiencies of vitamin and have no significant health problems. Severe cases may result in frequent skin rashes, muscle coordination and mental illness problems. There is no cure for Hartnup disease, but most patients can find relief from their symptoms by monitoring specialized diet and using vitamin supplements to repair their shortcomings.
intestines usually decompose amino acids from food and transport them to the liver and kidneys. These organs, in turn, metabolize chemicals to basic proteins and vitamins. In the case of Hartnup's disease, the genetic defect worsens the intestines and kidneys to metabolize diet amino acids. They are excluded as waste in the urine instead of being absorbed into the bloodstream. Hartnup's disease is an autosomal recessive disorder that is only inherited if both parents carry a mutated copy of a particular gENU, called SLC6A19.
The most important deficiency resulting from Hartnup's disease is the lack of nicotinamide, the type of vitamin B. A significant lack of vitamin B can cause skin problems and neurological symptoms. Some people develop chronic dermatitis that causes redness and itching throughout their body. Symptoms are the worst when the skin is exposed to direct sunlight.
People with large deficiencies of vitamin B can also experience frequent episodes of muscle weakness, shaking and poor coordination. Dementia is an unusual but potentially weakening consequence of Hartnup's disease. A severe and untreated case of Hartnup's disease, which first appears in infancy, may result in failing and irreversible mental retardation.
doctors can usually diagnose and treat Hartnup's disease before they cause the main problem. Urine samples are tested unusually inY -eye levels of amino acids and blood samples are proven to check that there is no vitamin deficiencies. Other potential causes of symptoms can be excluded by scanning brain display and complex genetic testing procedures.
patients with relatively mild symptoms are instructed to maintain high protein diet and take daily vitamin B supplements. Most neurological problems are repaired when vitamins return to their normal range. Since exposure to the sun is the main trigger of dermatitis, it may be told to wear protective clothing and sunscreen whenever it goes outside. Local creams can be prescribed to alleviate the symptoms of the skin if serious rashes continue to develop.