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Es una afección metabólica hereditaria que involucra el transporte de ciertos aminoácidos (por ejemplo, triptófanos e histidina) en el intestino delgado y en los riñones.
El trastorno de Hartnup posiblemente es la afección metabólica más común que involucra los aminoácidos. Es una afección hereditaria, en la cual el niño tiene que heredar una copia del gen defectuoso de ambos padres para resultar afectado seriamente.
La afección generalmente comienza entre las edades de 3 a 5 años.
Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.
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