Hartnup disorder : causes, symptoms, diagnosis, treatment, complications...

Hartnup disease is also referred to as Hartnup disorder. It’s a hereditary metabolic disorder. It makes it difficult for your body to absorb certain amino acids from your intestine and reabsorb them from your kidneys. Amino acids are essential building blocks for creating protein in your body.



Hartnup disease was named for the Hartnup family of England, who were featured in a 1956 study of the condition. Four out of eight family members were found to have excessive amounts of amino acids in their urine. They also had skin rash and a lack of coordination of their voluntary muscle movements, known as ataxia. These are the signs and symptoms characteristic of Hartnup disease, which typically affects the skin and brain.