Tag: Slc6a19 gene

Hartnup disease is a rare inherited disorder of amino acid metabolism that directly impacts the body's nutrient processing, which answers the question: which vitamin is deficient in Hartnup disease? The condition is caused by a genetic defect that impairs the absorption and reabsorption of neutral amino acids, especially tryptophan.

Hartnup disease is a rare autosomal recessive disorder involving the malabsorption of certain amino acids, and as a direct result, niacin deficiency can occur. This genetic condition disrupts the body's ability to properly utilize tryptophan, a key precursor for vitamin B3 synthesis.

According to the National Organization for Rare Disorders (NORD), Hartnup disease is estimated to affect roughly one in 30,000 people, a rare genetic condition that establishes a direct and critical connection to niacin deficiency. The core issue lies in the body's inability to properly absorb the amino acid tryptophan, a precursor for synthesizing niacin.

An estimated 1 in 30,000 individuals are affected by Hartnup disease, a rare metabolic disorder. This condition primarily affects the body's ability to absorb and utilize the amino acid tryptophan, which is a crucial precursor to niacin, explaining what vitamin is deficient in Hartnup disease.

Affecting approximately 1 in 30,000 people, a genetic defect is what is the defect in Hartnup disease, a rare metabolic disorder that hinders the body's ability to absorb neutral amino acids. This defect can lead to nutritional deficiencies and a range of clinical symptoms if not managed with a specialized nutrition diet.