What is homocystinuria, Biology

Assignment Help:

Q. What is Homocystinuria?

Homocystinuria may result from errors of methionine metabolism. This produces defects in the function of cystathionme b synthase or 5-mcthyltctrahydrofolate homocysteine methyltransferase.

The most common form of hornocystinuria is caused by a deficiency of the enzyme cystathionine b synthase. This enzyme is essential for the conversion of homocysteine to cystathionine. Severely impaired enzyme function produces accumulation of plasma homocysteine and methionine and decreased cysteine in cells. Large amounts of homocystine are excreted in the urine.


Related Discussions:- What is homocystinuria

Introduction to cleavage, INTRODUCTIO N - Karl Von Baer - Coined th...

INTRODUCTIO N - Karl Von Baer - Coined the term cleavage. Swammerdom - First time seen cleavage. Prevost and Dumas - Reported cleavage of frog's egg. Spllanzani - Detail

Define the physical activity level, Define the Physical activity level? ...

Define the Physical activity level? Physical activity level (PAL) is defined as the total energy required over 24 hours divided by the energy needed for basal metabolism over 2

Digestive system - pharynx, PHARYN X - Commom system between digestive...

PHARYN X - Commom system between digestive system and respiratory system. In it gullet and glottis present.Gullet leads to oesophagus. Glottis lead to trachea. Wall of p

Trinomial systeem of nomenclature, can you tell 10 examples of trinomial sy...

can you tell 10 examples of trinomial system of nomenclature?

Define the functional properties of hydrocolloids, Define the functional pr...

Define the functional properties of hydrocolloids The hydrocolloids not only have the functional properties but also have nutritional characteristics. Most polysaccharide gums

Instrument examination and care, Instrument Examination and Care Cleani...

Instrument Examination and Care Cleaning instruments, provides a good opportunity to examine, replace or remove damaged instruments; lubricate items such as handpieces; and oth

Children with infective endocarditis, Among neonates, IE typically involves...

Among neonates, IE typically involves the tricuspid valve of structurally normal hearts and is associated with very high mortality rates.  It is likely that many of these episodes

Give an overview about operons, Normal 0 false false false ...

Normal 0 false false false EN-IN X-NONE X-NONE MicrosoftInternetExplorer4 Various protein-codi

Reproduction and life cycles – protozoan, Reproduction and Life Cycles – Pr...

Reproduction and Life Cycles – Protozoan Asexual reproduction occurs in all protozoan through fission, budding and cyst formation. In this method the organism reproduces to fo

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