Murat SÜTÇÜ, Ayşe KILIÇ, Emin ÜNÜVAR, Nelgin GERENLİ, Muhammet Serdar CANTEZ, Işıl ÖZER, Fatma OĞUZ, Müjgan SIDAL, Gülden GÖKÇAY, Özlem DURMAZ

Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu

Tirozinemi, tirozin aminoasidi metabolizmasındaki heredi- ter bozukluktur Herediter tirozineminin çeşitli klinik form- ları olmakla birlikte, en sık tip 1 herediter tirozinemi diğer adıyla hepatorenal tirozinemi görülür. Bu durum tirozin aminoasidinin yıkımından sorumlu fumaril asetoasetat hidrolaz enzim defektinden kaynaklanır. Ön planda etkile- nen organlar karaciğer, böbrek ve sinir sistemidir. Böbrekte tubulopati sonucu fanconi sendromuna neden olarak hipo- fosfatemik raşitizme yol açabilir. Bacaklarda eğrilik ve yürümede güçlük yakınması ile başvuran ve herediter tiro- zinemi tanısı alan ender bir vaka sunulmuştur

Anahtar Kelimeler:

Herediter tirozinemi, hipofosfatemik raşitizm, fanconi sendromu

Hereditary Tyrosinemia Presented by Hypophosphatemic Rickets in Fifteen old Male Patient: A Rare Case Report

Tyrosinemia is a hereditary metabolic disorder of the amino acid, tyrosine. There are several types of tyrosine- mia, the most common of them is type 1 which is also recognized as hepatorenal tyrosinemia. Defects of asetoa- cetate hydrolase enzymes which are involved in the degra- dation of tyrosine are responsible for hereditary tyrosine- mia. Primarily liver, kidneys and nervous system, are affected Tubulopathies in hereditary tyrosinemia causes renal Fanconi syndrome which might result in hypophosp- hatemic rachitism. A rare case with limb deformities comp- laining of gait problems diagnosed as hereditary tyrosine- mia is presented

Keywords:

Hereditary tyrosinemia, Fanconi syndrome, hypophosphatemic rickets,

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