Alkaptonuria: A hereditary disease which is usually diagnosed in adulthood

• Κύριοι συγγραφείς: Mudita Gupta (Συγγραφέας), Rajni Sharma (Συγγραφέας), Ritu Rani (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homogentisate dioxygenase leading to accumulation of homogentisic acid. Urine becoming dark on oxygenation or alkalinization is the first symptom but is often ignored. The patient usually presents with pigm...