Hartnup's Disease

Hartnup disease is a rare hereditary disease characterized by impaired absorption of neutral amino acids in the small intestine.

The cause of the disease is a mutation in the SLC6A19 gene, which encodes an amino acid transport protein. Due to a defect in this protein, increased excretion of amino acids in the urine occurs.

The main symptoms of Hartnup disease: chronic diarrhea, dermatitis, flaking and hair loss, growth retardation and psychomotor development in children.

Diagnosis is based on detection of elevated levels of amino acids in the urine.

Treatment consists of prescribing a diet enriched with proteins and amino acids. The prognosis with timely diagnosis and adequate treatment is generally favorable.