What is the phenotype of Gaucher disease?
What is the phenotype of Gaucher disease?
Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (GD2; 230900), and subacute neuronopathic type III (GD3; 231000). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement.
What are the genotypes of Gaucher disease?
Gaucher Disease Genotypes and Phenotypes Many are rare mutations, but the N370S and L444P mutations are the most common. The L444P mutation is likely the most common worldwide, whereas the N370S mutation is most common in people with European ancestry.
What is the genetic basis of Gaucher disease?
Gaucher disease is caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person who has Gaucher disease inherits a mutated copy of the GBAgene from each of his/her parents.
What genes or chromosomes are related to Gaucher disease?
Gaucher’s disease happens because of a recessive mutation in a gene called GBA. GBA is located on chromosome 1. Humans normally have two copies of the genes that tell the body to produce the enzyme glucocerebrosidase, and both copies work correctly.
Who is affected by Gaucher disease?
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.
What part of the cell does Gaucher disease affect?
Gaucher cells are normal scavenger cells called macrophages that become full of unprocessed glucocerebroside. Gaucher cells accumulate primarily in the spleen, liver and bone marrow, causing organ inflammation and dysfunction.
What enzyme is affected in Gaucher disease?
Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide).
What is a Type Three baby?
Tyrosinemia, type III (TYR III) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. It is considered an amino acid condition because people with this condition are unable to break down the amino acid tyrosine.
