From darkening urine to early diagnosis of alkaptonuria
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Dosyalar
Tarih
2008
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medknow Publications
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. Characteristic features include darkening of urine, ochronosis, and arthropathy. Darkening of urine is the only sign of the disorder in the pediatric age group, and it occurs at very early stage of the disorder, as reported by the parents. A 4-year-old boy presented to our clinic with the complaint of dark urine and bluish black staining of clothes. This darkening pointed to a positive physical history of bluish discoloration of sclerae which occurred off and on. We initiated treatment with ascorbic acid and a protein diet with restriction of phenylalanine and tyrosine (1.6 g/kg/d). This case report is significant because of the early diagnosis made.
Açıklama
Anahtar Kelimeler
Alkaptonuria, blue sclerae, dark urine, homogentisic acid
Kaynak
Indian Journal of Dermatology Venereology & Leprology
WoS Q Değeri
N/A
Scopus Q Değeri
Q3
Cilt
74
Sayı
6
