Abstract
Tyrosinemia happens at whatever point both parents carry a latent gene characteristic for the condition. Both parents regularly have no signs or side effects of tyrosinemia which happens at whatever point their future generations inherits one duplicate of the mutated gene from each one parent. Type III tyrosinemia is a very rare disorder with only a couple of cases ever reported. Type III tyrosinemia is brought about by an insufficiency of the 4-hydroxyphenylpyruvate dioxygenase enzyme. The protein is important to break down tyrosine. Type III tyrosinemia causes intellectual disability, seizures, periodic loss of balance and coordination. Changes in the FAH, HPD, and TAT genes cause tyrosinemia. In the liver, proteins break down tyrosine in a five-stage process into safe particles that are either discharged by the kidneys or utilized in chemical reactions that generate energy. Mutations in the FAH, HPD, or TAT gene cause a lack of one of the proteins in this multistep process. The resultant chemical lack prompts a poisonous aggregation of tyrosine and its byproducts, which can harm the liver, kidneys, sensory system, and different organs and tissues
Tyrosinemia Type III
1. Introduction
Type III tyrosinemia is a rare disorder. There have just been a couple of cases of this disease ever reported. Type III tyrosinemia is caused by an insufficiency of the 4-hydroxyphenylpyruvate dioxygenase enzyme. The enzyme is important to break down tyrosine. Type III tyrosinemia causes intellectual disability, seizures, periodic loss of banlance and coordination. (Endo F, Kitano A, Uehara,1983) Tyrosinemia is a hereditary disease described by elevated blood levels of the amino acid tyrosine, a building block of most proteins. Tyrosinemia is brought about by an insufficiency of the 4-hydroxyphenylpyruvate dioxygenase enzyme required for multistep process that breaks down tyrosine. In the event that untreated, tyrosine and its byproducts develop in tissues and organs, which can lead to serious medical problems. (Endo F, Kitano A, Uehara,1983)
As stated by NORD, the National Organization for Rare Disorders, there are in the range of 6,000 distinguished extraordinary medicinal conditions. Around them is a dark sickness called tyrosinemia. This uncommon metabolic disease keeps the body from viably breaking down the amino acid tyrosine, a building block of many proteins. As stated by the U.S. National Library of Medicine, tyrosinemia is brought about by a lack of one of the proteins required to break down tyrosine. At the point when left untreated, tyrosinemia brings about tyrosine and its results developing in the body tissues and organs prompting many medical issues.
Tyrosinemia happens at whatever point both parents carry a latent gene characteristic for the condition. Both parents regularly have no signs or side effects of tyrosinemia which happens at whatever point their future generations inherits one duplicate of the mutated gene from each one parent. (Endo F, Kitano A, Uehara,1983). Symptoms of tyrosinemia include liver and kidney aggravations and mental hindrance. There are three different types of tyrosinemia: types I, II, and III. Each type of tyrosenemia has dissimilar symptoms brought on by a lack of a specific enzyme. (Standing SJ, Dunger D, Ruetschi U, Holme E,1988)
Luckily, as stated by the University of Washington Biochemical Genetics Clinic, when a child is diagnosed early with tyrosinemia, the issue might be effectively treated and inconveniences anticipated with suitable medications. These incorporate unique eating methodology and medicines and close research center checking. In a few cases a liver transplant may be required. (Cerone R, Holme E, Schiaffino MC, Caruso U, Maritano L, Romano C,1997)
1.1 Types:
Type I tyrosinemia, the most serious manifestation of this disorder, is created by a deficiency of the enzyme fumarylacetoacetate hydrolase. Symptoms typically
