Hartnup disease

Hart·nup disease 'härt-.nəp- n an inherited metabolic disease that is caused by abnormalities of the renal tubules and is characterized esp. by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum Hartnup (fl 1950s)

British family. Hartnup disease was first described in 1956 in an article published under the names of D. N. Baron, C. E. Dent, H. Harris, E. W. Hart, and J. B. Jepson; all were physicians at London hospitals. The clinical studies of Hartnup disease began in 1951 when a 12-year-old male member of the Hartnup family was admitted to a London hospital under the care of E. W. Hart. At first it was thought that he was suffering from severe pellagra associated with a neurological disorder. Detailed investigation and experimental treatment of his case over several years gradually led his physicians to the realization that they were dealing with a distinct and previously undescribed syndrome. Studies of the other members of the family revealed that Hartnup disease is an inherited metabolic disease. The disease affected four out of eight offspring of a marriage between first cousins.

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a rare hereditary defect in the absorption of the amino acid tryptophan, leading to mental retardation, thickening and roughening of the skin on exposure to light, and lack of muscular coordination. The condition is similar to pellagra. Treatment with nicotinamide is usually effective.

Hartnup, the family in whom it was first reported

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an inborn error of metabolism characterized by cerebellar ataxia, a pellagra-like condition of the skin, and massive aminoaciduria involving a group of neutral monoaminomonocarboxylic amino acids sharing a common renal reabsorption mechanism.