Alkaptonuria is a rare autosomal recessive metabolic disease due to a deficiency of e the homogentisic acid oxidase enzyme. We report two cases with advanced age. Our aim is to draw attention to the fact that alkaptonuria should suggestions for clarity in every patient who shows clinical features regardless of age. We diagnosed two patients, 61 and 69 years old, with alkaptonuria. Alkaptonuria is a rare disease that presents with multisystemic manifestation. While early detection of the clinical signs of the disease provides early diagnosis, appropriate treatment can significantly increase the quality of life.
Birincil Dil | İngilizce |
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Konular | İç Hastalıkları |
Bölüm | Case Reports |
Yazarlar | |
Yayımlanma Tarihi | 29 Ekim 2021 |
Gönderilme Tarihi | 16 Ekim 2021 |
Yayımlandığı Sayı | Yıl 2021 Cilt: 1 Sayı: 1 |