Hartnup disease

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Hartnup disease is a type of renal aminoaciduria characterised by selective failure of tubular reabsorption of a number of monoamino-monocarboxylic acids such as tryptophan. Deficiency of tryptophan produces pellagra-like symptoms which are accentuated by poor diet. Cerebellar ataxia and a mild mental handicap may be present.

In tandem with the renal deficiency, there is a failure to absorb neutral amino acids from the gut.

This condition is inherited as an autosomal recessive disease.

Treatment is with vitamins from the B complex and nicotinamide.

Last reviewed 01/2018

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