Definition:
Hartnup disease, also known as monkey disease or Hartnup's disorder, is an autosomal recessive disorder wherein the transport of neutral amino acids to the kidneys and small intestines is defective. Sufferers have a niacin deficiency as well as an inborn error of amino acid metabolism.
Diagnosis:
Doctors must take a detailed diet history and assess if the sufferer received adequate vitamins and proteins in his diet. A urinalysis can confirm the diagnosis if results show an abnormally high level of amino acids. Once identified and treated, patients can live a long and healthy life.
Treatment:
Niacin is given as treatment to sufferers. The typical dosage is 40-200 mg a day, which helps prevent the pellagra like symptoms. In some cases, dietary supplements of trytophan are required.
Sufferers should eat a healthy diet, high in protein. This can prevent the disease from recurring.
Symptoms and Signs:
Symptoms include photosensitivity, failure to thrive, nystagmus, tremor, and intermittent ataxia. Other symptoms include pellagralike skin eruptions, gross aminoaciduria, and cerebellar ataxia.
Acute attacks may be caused by exposure to sunlight, poor nutrition, psychological stress, and or sulphonamide medications.
Causes:
Hartnup disease is caused by gene mutations and is passed on due to its autosomal recessive nature.
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