Microvillus Inclusion Disease (MVID) is a rare genetic disorder that affects the digestive system. It is caused by mutations in certain genes, such as MYO5B and STX3. These mutations are typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Therefore, there is a hereditary component to MVID, but it requires both parents to be carriers of the mutated gene.
Microvillus Inclusion Disease (MVID) is a rare genetic disorder that affects the digestive system, specifically the small intestine. It is characterized by the inability of the cells lining the intestine to properly absorb nutrients and fluids, leading to severe diarrhea and malnutrition.
The inheritance pattern of MVID is autosomal recessive, which means that both parents must carry a copy of the mutated gene for their child to be affected. When both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit two copies of the mutated gene and develop MVID.
Genetic mutations in the MYO5B gene have been identified as the primary cause of MVID. This gene provides instructions for making a protein that is involved in the movement of cellular structures called microvilli, which are essential for nutrient absorption in the intestine. Mutations in the MYO5B gene disrupt the normal functioning of microvilli, leading to the characteristic features of MVID.
It is important for individuals with a family history of MVID or those who have a child diagnosed with MVID to seek genetic counseling. Genetic counselors can provide information about the inheritance pattern, perform genetic testing, and help individuals understand the risks of passing on the condition to their children.
While there is currently no cure for MVID, management involves supportive care to address the symptoms and complications associated with the condition. This may include specialized diets, fluid and electrolyte replacement, and in some cases, intestinal transplantation.