Hartnup disease

Last revised by Lincoln J Lim on 2 Aug 2023

Hartnup disease is an autosomal recessive disorder caused by the defective transport of neutral amino acids (monoamino-monocarboxylic acids) in the small intestine and kidneys.

Clinical presentation

  • pellagra-like skin eruptions

  • cerebellar ataxia

  • signs of spastic paraplegia with peripheral nerve damages

  • gross aminoaciduria

History and etymology

Hartnup disease was named for the Hartnup family of England, who were featured by Baron et al in a 1956 study. Four out of eight family members were found to have excessive amounts of amino acids in their urine. They also had skin rash and ataxia.

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.