📂 Diseases
tyrosinemia type I — Definition
Tirozinemi tip I / tyrosinemia type I
Tirozinemi type I is a rare genetic disease caused by a lack of enzyme in the metabolism of tirozin amino acid. Fumarilasetoasetathione is one of the toxic metabolites in the liver, kidneys and nervous system, as a result of the absence of hydrolaz enzyme. It manifests itself with hepatic failure, growth backrest and neurological findings during early babyhood. If not treated, cirrhosis can lead to hepatocellular and deadly complications.
Frequently Asked Questions
❓ What is Tirozinemi tip I?
Tirozinemi tip I; tirozinemi type I is a rare genetic disease caused by a lack of enzyme in the metabolism of tirozin amino acid. Fumarilasetoasetathione is one of the toxic metabolites in the liver, kidneys and nervous system, as a result of the absence of hydrolaz enzyme. It manifests itself with hepatic failure, growth backrest and neurological findings during early babyhood. If not treated, cirrhosis can lead to hepatocellular and deadly complications.
❓ What is tyrosinemia type I in Turkish?
The Turkish equivalent of "tyrosinemia type I" is Tirozinemi tip I.
❓ Which medical field is Tirozinemi tip I related to?
This term belongs to the Diseases category.