This article on Epainassist.com has been retrospect by a medical professional , as well as checked for facts , to assure the lector the best possible accuracy .
We follow a strict editorial insurance policy and we have a zero - tolerance insurance policy regarding any degree of plagiarisation . Our articles are resourced from reputable online pages . This article may contain scientific references . The number in the divagation ( 1 , 2 , 3 ) are clickable radio link to peer - reexamine scientific papers .
The feedback liaison “ Was this Article Helpful ” on this varlet can be used to account content that is not exact , up - to - particular date or questionable in any manner .
This article does not cater aesculapian advice .
Tyrosinemia is ametabolous disorderin which the body is not able to efficaciously bust down an amino group pane call Tyrosine . increase concentration of tyrosine in blood affect theliverandkidneys . In this article , we will discuss in particular about the various causes , symptoms , and treatment for Tyrosinemia .
How Is Tyrosinemia Defined?
Tyrosinemia is a form of metabolic error , which is inborn in nature in relation to acute liver dysfunction during infancy . In Tyrosinemia , the body is unable to break down amino acid effectively resulting in severe kidney and liver dysfunction . Tyrosinemia is inherited in an autosomal recessive way meaning that to have the disease the child must inherit two defective genes , one from each parent . The ratio of infected versus non - septic individuals is 1:100,000 . There are three forms of Tyrosinemia with each form get its own set of symptoms and is do by deficiency of different enzymes . These three forms are :
Causes of Tyrosinemia
Tyrosine is an aminic acid found in the proteins , which is essentially metabolized in the liver . Tyrosinemia is caused as a result of the absence seizure of enzyme Fumarylacetoacetate Hydrolase . This enzyme is extremely vital for tyrosine metabolism . If the enzyme Fumarylacetoacetate Hydrolase is absent , this often leads to assemblage of toxic metabolic mathematical product in different consistence tissue paper ultimately resulting in gradual damage to liver and kidney .
Symptoms Of Tyrosinemia
When it come to symptoms of Tyrosinemia , they fundamentally fall into two major forms , acute and chronic .
Diagnosis of Tyrosinemia
Blood Examination-
Ultrasound Examination-
CT Scan and/or Magnetic Resonance Imaging (MRI)
Treatment For Tyrosinemia
Dietary Modification-
Nitisinone Treatment
Nitisinone has also been shown to be effective.4
Liver Transplant
Liver transplanting for advanced cases of Tyrosinemia.4
References :
