Microvillus Inclusion Disease Overview
Learn About Microvillus Inclusion Disease
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.
Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling.
The prevalence of microvillus inclusion disease is unknown. At least 200 cases have been reported in Europe, although this condition occurs worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
James Goldenring is a primary care provider, practicing in General Practice in Nashville, Tennessee. Dr. Goldenring is rated as an Elite provider by MediFind in the treatment of Microvillus Inclusion Disease. His top areas of expertise are Microvillus Inclusion Disease, Cytomegalic Inclusion Disease, Stomach Cancer, and Diarrhea.
Mitchell Shub is a Gastroenterologist in Phoenix, Arizona. Dr. Shub is rated as an Elite provider by MediFind in the treatment of Microvillus Inclusion Disease. His top areas of expertise are Microvillus Inclusion Disease, Malabsorption, Mesenteric Artery Ischemia, and Berdon Syndrome.
Lukas Huber practices in Innsbruck, Austria. Mr. Huber is rated as an Elite expert by MediFind in the treatment of Microvillus Inclusion Disease. His top areas of expertise are Microvillus Inclusion Disease, Mucolipidosis Type 4, Mucolipidosis 3, and Sialidosis.
Summary: a 32-week study that will evaluate the safety, tolerability and preliminary efficacy of multiple ascending doses of crofelemer, compared to placebo, using a randomized cross-over design within each dose level, when administered to participants with MVID receiving parenteral support (PS, defined as TPN with or without supplementary IV fluid requirements). Blinded study drug will be administered as ...
Published Date: July 01, 2014
Published By: National Institutes of Health