An inherited condition affecting amino acid metabolism and producing thick skin and impaired mental development [After the name of the family in which this hereditary disease was first recorded].
Hartnup disease is characterized by diminished absorption of monoamino-monocarboxylic amino acids from the intestine and from blood filtered through the kidney. This condition is presumably caused by a defect in the amino acid transporter gene located on Chromosome 2.
Hereditary defect of the metabolism of certain amino acids, characterized by dry, scaly skin lesions, gastrointestinal problems, extreme photosensitivity, and often psychological and mental abnormahties.
A hereditary defect in the metabolism of the amino acid tryptophan, leading to mental retardation, thickening and roughening of the skin, and lack of muscular coordination.
A rare autosomal recessive metabolic disease in which absorption, excretion, and kidney resorption of amino acids, especially tryptophan, is abnormal. Clinical signs resemble pellagra, with a rash that is worsened by exposure to sunlight.
This is a rare inherited disorder, transmitted in an autosomal recessive manner, where the body fails to absorb and process an adequate amount of certain amino acids, especially tryptophan, which are essential chemical compounds constituting proteins.
A lack of tryptophan can lead to episodes of various symptoms, particularly cerebellar ataxia, which causes an unsteady and poorly coordinated gait. Additionally, symptoms resembling those of pellagra may occur, such as a red, scaly rash on sun-exposed skin, depression, and thought disorders. Headaches and diarrhea may also be present. These symptoms can be triggered by infections, stress, or sunlight exposure and can persist for up to four weeks. Following these flare-ups, there are often extended periods of remission.
Confirmation of the diagnosis involves testing the urine for abnormally elevated levels of amino acids. Treatment typically involves nicotinic acid administration and adhering to a high-protein diet, which often leads to a favorable prognosis. As individuals grow older, the frequency of attacks usually diminishes.