What is cystathioninuria disorder?
What is cystathioninuria disorder?
Disease definition. A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance.
Which enzyme is defective in Cystathioninuria?
In cystathioninuria, the enzyme cystathionine gamma-lyase, which normally catalyzes the hydrolysis of cystathionine to cysteine, is defective. As a result, abnormally high concentrations of cystathionine appear in the urine.
What causes Hartnup disease?
Hartnup disease is caused by alterations (mutations) in the SLC6A19 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.
What is homocysteine plasma?
Homocysteine is a type of amino acid, a chemical your body uses to make proteins. Normally, vitamin B12, vitamin B6, and folic acid break down homocysteine and change it into other substances your body needs. There should be very little homocysteine left in the bloodstream.
What is CBS gene?
The CBS gene provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for using vitamin B6 to convert building block of proteins (amino acid) called homocysteine and serine to a molecule called cytathionine.
What is Hypermethioninemia?
Hypermethioninemia is an excess of a particular protein building block (amino acid ), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms.
Who discovered Hartnup disease?
The incidence of Hartnup disease is 1 in 15,000 live births. [1] Hartnup disease was first described by Baron et al. in 1956 in a family in England in which four siblings were affected.
Who is Hartnup disease named after?
Hartnup disease was named for the Hartnup family of England, who were featured in a 1956 study of the condition. Four out of eight family members were found to have excessive amounts of amino acids in their urine. They also had skin rash and a lack of coordination of their voluntary muscle movements, known as ataxia.
