Hartnup disease

Hartnup disease is inherited as an autosomal recessive trait.

An example is Hartnup disease.

Elevated levels of tryptophan are also seen in Hartnup disease, a disorder of amino acid transport.

Mutations in the SLC6A19 gene cause Hartnup disease.

Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardation, gastrointestinal problems, and central nervous system abnormalities.

He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria.

Hartnup disease manifests during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor.

Consequently, a person with Hartnup disease cannot absorb amino acids properly from the intestine and cannot reabsorb them properly from tubules in the kidneys.

Niacin deficiency may result from certain medical conditions (e.g., alcohol abuse, malabsorption syndrome, Hartnup disease), poor diet, or long-term use of certain medications (e.g., isoniazid).

In Hartnup disease, urinary excretion of proline, hydroxyproline, and arginine remains unchanged, differentiating it from other causes of generalized aminoaciduria, such as Fanconi syndrome.

Hartnup disease is a disorder of amino acid transport in the intestine and kidneys; otherwise, the intestine and kidneys function normally, and the effects of the disease occur mainly in the brain and skin.

Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin and niacin).

In contrast to Hartnup disease and related tubular conditions, Fanconi syndrome affects the transport of many different substances, so is not considered to be a defect in a specific channel, but a more general defect in the function of the proximal tubules.

H Disease Hart Syndrome Pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome Tryptophan Pyrrolase Deficiency Hartnup Syndrome Hartnup Disorder None Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait.

The neutral amino acid transporter SLC6A19 (affecting glycine, proline, and other neutral amino acids like cysteine and tryptophan), associated with Hartnup disease, plays a role in iminoglycinuria as a modifier to PAT2 mutations and is also directly affected by the actions of SIT1.