Hartnup Disorder

Hartnup disease is an inherited metabolic disorder in which the body has difficulty absorbing and using certain amino acids at the level of the intestine and kidneys.

How it presents: In many people it goes unnoticed, although it can sometimes be accompanied by skin changes with sun exposure and episodic neurological symptoms.

Origin: It stems from an inherited disorder that affects the transport of amino acids within the body.

Which specialist treats it? The pediatrician follows the child and, when a metabolic disorder is suspected, requests the involvement of genetics or metabolism specialists. If unusual skin reactions or recurring neurological symptoms appear, it is worth discussing them with a professional who can study their origin.