What type of mutation do we expect to find in the alpha-galactosidase gene?
Fabry disease The most common type of mutation changes a single protein building block (amino acid) in alpha-galactosidase A.
What type of mutation causes Fabry disease?
Fabry disease is caused by variants (also known as mutations) in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes , which are structures that serve as recycling centers within cells.
What does α-galactosidase A do?
Abstract. α-Galactosidase is an enzyme that catalyzes hydrolysis of the terminal α-galactosyl moieties of oligosaccharides and polysaccharides. These saccharides are abundant in plants, particularly in legumes and vegetables that make up important sources of food and feed.
Is Fabry disease a point mutation?
(1989) Fabry disease: Six gene rearrangements and an exonic point mutation in the α-galactosidase gene. J. Clin. Invest.
Do humans make alpha-galactosidase?
Raffinose, stachyose and melibiose are other oligosaccharides found in beans, peas and vegetables in the cabbage family. These carbohydrates require a particular enzyme — alpha-galactosidase — to assist in their digestion. Our bodies don’t manufacture this enzyme.
What is alpha-galactosidase deficiency?
Fabry disease is a rare genetic disease with a deficiency of an enzyme called alpha-galactosidase A. The disease affects many parts of the body including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system. Symptoms of Fabry disease include: Episodes of pain and burning sensations.
How many mutations cause Fabry disease?
We have compiled a list of 429 mutations of the GLA gene from the published literature, including 306 point mutations (missense, nonsense and those affecting splice sites), 115 ‘short-length’ rearrangements (affecting fewer than 60 nucleotides) and eight gross rearrangements (affecting one or more exons).
What is alpha-galactosidase derived from?
α-GAL derived from aspergillus niger (a common mold) is an active ingredient in products marketed to reduce stomach gas production after eating foods known to cause gas.
How do you get alpha-galactosidase?
- Alpha-gal (galactose-α-1,3-galactose) is a sugar molecule found in most mammals.
- Alpha-gal is not found in fish, reptiles, birds, or people.
- Alpha-gal can be found in meat (pork, beef, rabbit, lamb, venison, etc.) and products made from mammals (including gelatin, cow’s milk, and milk products).
Does body produce alpha-galactosidase?
These carbohydrates require a particular enzyme — alpha-galactosidase — to assist in their digestion. Our bodies don’t manufacture this enzyme.
What is classic Fabry disease?
Fabry disease is a serious genetic disorder that can lead to life-threatening heart and kidney problems. It’s a progressive disease that worsens over time. Symptoms may develop during childhood (classic type) or middle adulthood (atypical type). Males tend to have more severe symptoms.