TY  - JOUR
T1  - Erken Tespit Edilen Alkaptonüri: Vaka Sunusu
TT  - An Early Detected Alkaptonuria: Case Report
AU  - Yılmaz, Resul
AU  - Özçetin, Mustafa
AU  - Karaarslan, Erhan
AU  - Esmeray, Haluk
PY  - 2011
DA  - April
DO  - 10.5222/j.child.2011.078
JF  - Çocuk Dergisi
PB  - İstanbul Üniversitesi
WT  - DergiPark
SN  - 1308-8491
SP  - 78
EP  - 80
VL  - 11
IS  - 2
LA  - tr
AB  - Alkaptonüri, ender görülen, otozomal resesif geçişli,  tanımlanmış ilk doğumsal metabolik hastalıktır. Homo- gentisik asit oksidaz enzim yetersizliğine bağlı olarak  homogentisik asit ve metabolitlerinin bağ dokusunda birik- mesi ile hastalık belirtileri ortaya çıkar. Ateş yüksekliği ve  boy kısalığı nedeniyle başvuran kız hastada idrarda renk  değişikliğinin ayrıcı tanıda yol gösterici olduğu, erken  yaşta tespit edilen alkaptonüri vakası sunulmuştur
KW  - Alkaptonüri
KW  - çocuk
KW  - erken tanı
N2  - Alkaptonuria is the first described autosomal recessive  inherited metabolic disorder. Signs and symptoms appear  with deposition of homogentisic acid and its metabolites in  the connective tissue due to homogentisic acid oxidase  deficiency. In this article a case of 7- year old girl is pre- sentedreferred with the complaints of fever and short sta- ture, and diagnosed as a case of alkaptonuria with the  guiding diagnostic clue of discoloration of urine
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UR  - https://doi.org/10.5222/j.child.2011.078
L1  - https://dergipark.org.tr/tr/download/article-file/1328041
ER  -