SNP Shot: Genomic Insights

Microvillus inclusion disease (MVID) is a serious disorder causing persistent, watery, and often life-threatening diarrhea. This diarrhea usually starts very early in life, typically within hours or days of birth. In rare cases, it may begin later, around 3 to 4 months of age. Eating tends to worsen the diarrhea.

MVID impairs the body's ability to absorb nutrients from food during digestion, leading to malnutrition and dehydration. Affected infants often struggle to gain weight and grow at a normal pace (failure to thrive). They may also experience developmental delays, liver and kidney issues, and bone thinning (osteoporosis). Some individuals with MVID develop cholestasis, a condition where the body produces and releases less bile, a crucial digestive fluid. Cholestasis can progress to cirrhosis, a form of irreversible liver disease.

People with microvillus inclusion disease require lifelong nutritional support, typically provided through intravenous feedings, also known as parenteral nutrition.

A less severe form of MVID exists, characterized by milder diarrhea. Individuals with this variant often do not require continuous parenteral nutrition and frequently survive beyond childhood.

Inheritance:

MVID follows an autosomal recessive inheritance pattern. This means that for a person to develop the condition, they must inherit a mutated copy of the responsible gene from both parents. Parents who each carry one copy of the mutated gene usually do not exhibit any signs or symptoms of the disorder themselves.