What are the products of cystathionine beta lyase and cystathionine gamma-lyase?
EC no. CAS no. Thus, the substrate of this enzyme is L-cystathionine, whereas its 3 products are homocysteine, pyruvate, and ammonia.
What is cystathionase?
Medical genetics. Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine.
What is CTH in biology?
CTH Gene – Cystathionine Gamma-Lyase This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria.
What is meant by lyase?
Definition of lyase : an enzyme (such as a decarboxylase) that forms double bonds by removing groups from a substrate other than by hydrolysis or that adds groups to double bonds.
Is there a cure of homocystinuria?
There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. Those who do not respond to supplements will need to eat a low-methionine diet.
What happens to a person with homocystinuria?
Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia .
What is alkaptonuria biochemistry?
Alkaptonuria, or black urine disease, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.