What is the pattern of inheritance for Fabry disease?
Fabry disease is inherited in an X-linked manner. This refers to the location of the GLA gene (Fabry gene) mutation/defect on the X chromosome. The X and Y chromosomes, two of the 23 pairs of chromosomes in the body, among many other functions, determine the sex of an individual. Females have two X chromosomes.
What is GL-3 in Fabry disease?
Fabry disease, a rare X-linked α-galactosidase A deficiency, causes progressive lysosomal accumulation of globotriaosylceramide (GL-3) in a variety of cell types. As the disease progresses, renal failure, left ventricular hypertrophy, and strokes may occur.
Is the Fabry disease dominant or recessive?
Fabry disease is an X-linked disorder, neither recessive nor dominant (25). The penetrance of Fabry disease in females is quite high, with at least 70% of females showing clinical manifestations of the disease (26).
What is the GLA gene?
The GLA gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that act as recycling centers within cells. Lysosomes use digestive enzymes to process worn-out cell components and recycle usable parts.
Can females have Fabry disease?
New research is demonstrating that females with Fabry disease do, in fact, have a wide range of symptoms. These symptoms vary from one female to another, more than they vary among males. They range from mild to severe, may start later in life, and may affect different organ systems in different people.
What kind of mutation is Fabry disease?
Fabry disease is caused by mutations of the X-linked GLA gene that produce a deficiency of the lysosomal enzyme α-galactosidase A. Deficiency of α-galactosidase A results in the inability of cells to catabolize glycosphingolipids with terminal α-D-galactosyl residues.
What are the symptoms of GL?
Two of the most noticeable signs and symptoms of GL are looking muscular or unusually lean and being hungry all the time, even after eating a full meal….Things you may notice
- A round belly.
- Enlarged hands, feet, and jaw.
- Enlarged or visible veins.
- Dark, velvety patches of skin.
- Sudden breakout of bumps.
- Advanced bone age.
What is a Fabry screen?
First line screening test for Fabry’s disease (alpha-galactosidase deficiency). This screen should be the first line test for this disorder.
How is Fabry disease diagnosed?
For males, a blood test measures the level of alpha-GAL enzyme. If the alpha-GAL enzyme assay (“assay” is another word for “test”) shows low enzyme activity, then the person has Fabry disease. For females, a DNA test is required. This is because alpha-GAL enzyme levels may be low or near-normal in females.
Where is the GLA gene located?
The GLA gene was mapped to the region q22. 1 of the X chromosome. The coding part of the gene consists of 1290 base pairs (bp), is divided into seven exons, ranging in size from 92 to 291 bp, and defines a polypeptide of 429 amino acids.
Is Fabry an autoimmune disease?
Discussion: Fabry disease is multi-systemic and shares common symptoms with autoimmune rheumatic diseases, for example fatigue (62%) and neuropathic pain (77%).