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

Extra-embryonic membranes and placenta, Extra-Embryonic Membranes and Place...

Extra-Embryonic Membranes and Placenta The extra embryonic membranes like you already know provide nourishment and protection. These membranes are fundamentally similar to th

Explain the chemical properties of monosaccharides, Explain the Chemical Pr...

Explain the Chemical Properties of Monosaccharides? As you already know the chemical properties of monosaccharides depend on the presence of the hydroxyl the aldehyde or the ke

What happens to pepsin when it passes into the duodenum, Q. Since pepsin is...

Q. Since pepsin is a gastric enzyme does it have a basic or an acid optimum pH? What happens to pepsin when it passes into the duodenum? Pepsin acts contained by the stomach so

When fecundation to be effective, Q. How long after ovulation must fecundat...

Q. How long after ovulation must fecundation occur to be effective? If fecundation doesn't occur around 24 hours after ovulation the released ovum often dies.

Explain the glass test tubes - food microbiology, Explain the Glass Test Tu...

Explain the Glass Test Tubes - Food Microbiology Sterile glass tubes are used for culturing microorganisms in liquid or solid media. Sterility in tubes is maintained by using c

External sources for health care, Normal 0 false false fals...

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

Role of hormones in aging, Role of Hormones in Aging Aging as well ref...

Role of Hormones in Aging Aging as well reflects the inefficiency of the endocrine system. A change in the hormonal secretions may contribute to the development of physical ai

What essential function do they serve, Why do membranes figure so prominent...

Why do membranes figure so prominently in eukaryotic cells? What essential function do they serve?

Define most probable number (mpn) method, Define Most Probable Number (MPN)...

Define Most Probable Number (MPN) Method? The MPN method is like agar shake tube method where no agar is used. The dilutions of the microbial suspension are made in liquid medi

Production of healthcare, Normal 0 false false false EN...

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

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