What is tyrosinemia, Biology

Assignment Help:

Q. What is Tyrosinemia?

There are two forms of hereditary tyrosinemia. They are tyrosinemia Type I and tyrosinemia Type II. Type I was thought to be due to a deficiency of parahydroxy phenylpyruvic acid oxidase. But recently secondary impairment in this enzyme has been attributed to a primary defect of hepatic firnaryl acetoacetate hydrolase. Patients with deficiency show renal tubular impairment, hypophosphatemic rickets, liver failure and hypertension. The plasma concentrations of phenylalanine and tyrosine are elevated.

In tyrosinemia type 11, there is a very elevated concentration of blood and urine tyrosine. Increase in urinary phenolic acids, N-acetyltyrosine and tyramine is seen.

Other symptoms include corneal erosions, hyperkeratosis on the fingers and palms and sole of the feet. Mental retardation may occur.


Related Discussions:- What is tyrosinemia

Explain the numerical aperture, Explain the Numerical Aperture? Numeric...

Explain the Numerical Aperture? Numerical aperture is a characteristic of each lens and is printed on the lens. It can be defined as a function of the diameter of the objective

Deficiency diseases-post-parturient haemoglobinuria (pph), Post-parturient ...

Post-parturient haemoglobinuria (pph) in cattle and buffaloes The post-parturient haemoglobinuria (PPH) is an acute disease of high yielding buffaloes and cows. The disease oc

Parasitology, how trematodes/nematodes adapt to their parasitic mode of fee...

how trematodes/nematodes adapt to their parasitic mode of feeding

What is genetic engineering, Q. What is genetic engineering? Genetic en...

Q. What is genetic engineering? Genetic engineering, It is also known as molecular cloning or gene cloning, is artificial recombination of nucleic acid molecules in a test tube

Define techniques for detection hidden root canals, Define Techniques for D...

Define Techniques for Detection Hidden Root Canals Three well-angulated periapical films for 3D morphology: o With the cone directed straight on. o Mesiobilque. o And disto

Tolrance, geographical range graph on minimum and maximum range of toleranc...

geographical range graph on minimum and maximum range of tolerance

Gonads and ovary - reproduction, Normal 0 false false false...

Normal 0 false false false EN-IN X-NONE X-NONE MicrosoftInternetExplorer4

Explain phylum phytofagellata, Phylum Phytofagellata (Plant flagellates...

Phylum Phytofagellata (Plant flagellates) 1) At some stage of life cycle they have one or more flagella. The flagella are used for locomotion. 2) Photosynthetic protistan

Explain process to maintain the quality of frying oil, Maintaining the qual...

Maintaining the quality of frying oil  As frying continues, the level of oil in the fryer depletes. There are two beneficial frying fat quality factors affected during the fryi

What is ancylostomiasis, Q. What is ancylostomiasis? The Ancylostomiasi...

Q. What is ancylostomiasis? The Ancylostomiasis is a disease caused by the Necator americanus or Ancylostoma duodenale both hookworms belonging to the nematode phylum (roundwor

Write Your Message!

Captcha
Free Assignment Quote

Assured A++ Grade

Get guaranteed satisfaction & time on delivery in every assignment order you paid with us! We ensure premium quality solution document along with free turntin report!

All rights reserved! Copyrights ©2019-2020 ExpertsMind IT Educational Pvt Ltd