AI Summary & Key Takeaways
AI InsightA rare case with limb deformities comp- laining of gait problems diagnosed as hereditary tyrosine- mia is presented
📌 3 Key Takeaways
Abstract
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
Özet
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