Microvillus inclusion disease

A congenital hereditary disorder with autosomal recessive inheritance. It is characterized by intractable watery DIARRHEA during infancy. The early onset form manisfests in the neonatal period and late-onset appears within the first 3 or 4 months of life. Definite diagnosis is made by TRANSMISSION ELECTRON MICROSCOPY, where shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature ENTEROCYTES and peripheral accumulation of PAS REACTION - positive granules or vesicles in immature ENTEROCYTES is observed. Mutations in the MYO5B gene have been identified. OMIM: 251850

Also Known As:

Networked: 68 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Diarrhea
2.	Atrophy
3.	End Stage Liver Disease
4.	Short Bowel Syndrome
5.	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)

Experts

1.	Huber, Lukas A: 8 articles (01/2022 - 10/2008)
2.	Müller, Thomas: 8 articles (01/2022 - 10/2008)
3.	Hess, Michael W: 7 articles (01/2022 - 10/2008)
4.	Janecke, Andreas R: 7 articles (01/2022 - 10/2008)
5.	Vogel, Georg F: 6 articles (01/2022 - 01/2014)
6.	Goldenring, James R: 5 articles (04/2021 - 07/2014)
7.	van IJzendoorn, Sven C D: 4 articles (01/2022 - 10/2010)
8.	Rings, Edmond H H M: 4 articles (12/2020 - 03/2011)
9.	Adam, Rüdiger: 3 articles (08/2021 - 07/2014)
10.	Engevik, Amy C: 3 articles (01/2021 - 01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Microvillus inclusion disease:

1.	TrypsinIBA 10/01/1975 - "After a prolonged alimentary fast of up to 26 days on intravenous alimentation, two patients with intractable diarrhea of infancy showed improvement in the activities of enterokinase and trypsin. " 10/01/1975 - "The interrelationship of enterokinase and trypsin activities in intractable diarrhea of infancy, celiac disease, and intravenous alimentation." 10/01/1975 - "The six infants between 2 and 3 months with intractable diarrhea of infancy had reduced mucosal enterokinase activity (9.5 +/- 4.8muM per gram of protein per minute) and reduced intraluminal trypsin activity (2.9 +/- 0.7muM per gram of protein per minute) as compared with healthy controls (109 +/- 34.2muM per gram of protein per minute and 14.3 +/- 5.8muM per gram of protein per minute) respectively. " 10/01/1975 - "These findings suggest that enterokinase deficiency and reduced intraluminal trypsin activity in intractable diarrhea of infancy may be one of the contributing factors to protein malabsorption and consequent malnutrition. "
2.	EnteropeptidaseIBA 10/01/1975 - "The interactions between enterokinase and trysin were investigated in 6 patients with intractable diarrhea of infancy and 34 children with celiac disease. " 10/01/1975 - "After a prolonged alimentary fast of up to 26 days on intravenous alimentation, two patients with intractable diarrhea of infancy showed improvement in the activities of enterokinase and trypsin. " 10/01/1975 - "The enterokinase activity in celiac disease is near normal in contrast to the marked reduction noted in intractable diarrhea of infancy even though the intestinal mucosa shows marked morphological alteration and the disaccharidase activities are greatly reduced in celiac disease. " 10/01/1975 - "The interrelationship of enterokinase and trypsin activities in intractable diarrhea of infancy, celiac disease, and intravenous alimentation." 10/01/1975 - "The six infants between 2 and 3 months with intractable diarrhea of infancy had reduced mucosal enterokinase activity (9.5 +/- 4.8muM per gram of protein per minute) and reduced intraluminal trypsin activity (2.9 +/- 0.7muM per gram of protein per minute) as compared with healthy controls (109 +/- 34.2muM per gram of protein per minute and 14.3 +/- 5.8muM per gram of protein per minute) respectively. "
3.	Myosins (Myosin)IBA 07/19/2022 - "Microvillus inclusion disease (MVID), a lethal congenital diarrheal disease, results from loss of function mutations in the apical actin motor myosin VB (MYO5B). " 06/01/2022 - "Microvillus inclusion disease (MVID) has been classically described and results from mutations in the gene coding myosin Vb, which is responsible for enterocyte polarization. " 01/01/2022 - "Taken together, our results provide evidence that UNC45A plays an essential role in epithelial morphogenesis through its cochaperone function of myosin VB and that UNC45A loss causes a variant of microvillus inclusion disease." 01/01/2022 - "UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking." 01/01/2022 - "Mutations of the myosin 5B gene (MYO5B) are known to cause microvillus inclusion disease. "
4.	Proteins (Proteins, Gene)FDA Link 04/28/2021 - "Mutations in the actin motor protein myosinVb (myo5b) cause aberrant apical cargo transport and the congenital enteropathy microvillus inclusion disease (MVID). " 01/01/2018 - "A detailed analysis of BOECs isolated from a patient with variant microvillus inclusion disease, carrying a homozygous mutation in STX3(STX3-/-), showed a loss of syntaxin-3 protein and absence of WPB-associated syntaxin-3 immunoreactivity. " 01/01/2018 - "Deletion of the apical endosomal protein EDTB in the small intestine during development impairs enterocyte morphogenesis, including loss of the apical endocytic complex, defective formation of the lysosomal compartment, and some cells had large microvillus-rich inclusions similar to those observed in microvillus inclusion disease. " 07/09/2013 - "Here, we solved the crystal structures of MyoVa-GTD in its apo-form and in complex with two distinct cargos, melanophilin and Rab interacting lysosomal protein-like 2. The apo-MyoVa-GTD structure indicates that most mutations found in patients with Griscelli syndrome, microvillus inclusion disease, or cancers or in "dilute" rodents likely impair the folding of GTD. " 10/01/2010 - "In particular, defects in the expression or function of these recycling endosome-associated and endosome-regulating proteins have been implicated in cell surface polarity defects and diseases, including microvillus inclusion disease, arthrogryposis-renal dysfunction-cholestasis syndrome, and virus susceptibility. "
5.	Qa-SNARE Proteins (Syntaxin)IBA 01/01/2019 - "Microvillus inclusion disease, a diagnosis to consider when abnormal stools and neurological impairments run together due to a rare syntaxin 3 gene mutation." 07/01/2014 - "Loss of syntaxin 3 causes variant microvillus inclusion disease." 01/01/2020 - "Mutations in the myosin 5β, syntaxin-binding protein 2, and syntaxin 3 genes lead to microvillus inclusion disease (MVID), an autosomal recessive congenital enteropathy. " 11/09/2015 - "Mutations in the motor protein Myosin Vb (Myo5B) or the soluble NSF attachment protein receptor Syntaxin 3 (Stx3) disturb epithelial polarity and cause microvillus inclusion disease (MVID), a lethal hereditary enteropathy affecting neonates. "
6.	SodiumIBA 12/01/2010 - "Prenatal sonographic identification of dilated bowel loops in association with polyhydramnios suggests congenital diarrhea and a differential diagnosis of microvillus inclusion disease in addition to congenital chloride diarrhea and congenital sodium diarrhea. " 01/01/2020 - "Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters." 09/01/2001 - "There are many etiologies responsible for severe intractable diarrhea in infancy, for instance, autoimmune enteropathy, microvillus inclusion disease, tufting enteropathy, food allergy, post-enteritis syndrome, chronic intestinal pseudo-obstruction, Hirschsprung's disease, intestinal lymphangiectasia, congenital sodium or chloride diarrhea, and congenital enzymatic deficiency. "
7.	Soybean Proteins (Soy Protein)IBA 05/01/1977 - "Four patients who had intractable diarrhea of infancy and who failed to thrive were tested by oral challenge with soy protein isolate and were found to have soy protein intolerance. " 12/01/1991 - "In particular, there were 230 patients aged 3 months to 13 years with the following diagnoses: chronic nonspecific diarrhea, cow's milk protein intolerance, soy protein intolerance, giardiasis, cystic fibrosis, gluten-sensitive enteropathy, isolated lactase deficiency, isolated sucrase-isomaltase lactase deficiency, microvillus inclusion disease, rotavirus enteritis, protracted diarrhea of infancy, chylomicron retention disease, visceral myopathy and villous asthenia. "
8.	Phosphotransferases (Kinase)IBA 07/19/2022 - "Loss of Serum Glucocorticoid-Inducible Kinase 1 SGK1 Worsens Malabsorption and Diarrhea in Microvillus Inclusion Disease (MVID)." 03/01/2014 - "We observe a similar loss of the subapical enrichment of Rab11a and the kinases and reduced phosphorylation of ezrin in microvillus inclusion disease, which is associated with MYO5B mutations, intestinal microvilli atrophy and malabsorption. "
9.	ChloridesIBA 09/01/2013 - "Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease which is characterized by intractable diarrhea of infancy, failure to thrive, high fecal chloride, hypochloremia, hypokalemia, hyponatremia and metabolic alkalosis. " 09/01/2001 - "There are many etiologies responsible for severe intractable diarrhea in infancy, for instance, autoimmune enteropathy, microvillus inclusion disease, tufting enteropathy, food allergy, post-enteritis syndrome, chronic intestinal pseudo-obstruction, Hirschsprung's disease, intestinal lymphangiectasia, congenital sodium or chloride diarrhea, and congenital enzymatic deficiency. "
10.	AcidsIBA 10/16/2023 - "Microvillus inclusion disease (MVID), caused by loss-of-function mutations in the motor protein myosin Vb (MYO5B), is a severe infantile disease characterized by diarrhea, malabsorption, and acid/base instability, requiring intensive parenteral support for nutritional and fluid management. " 01/29/2023 - "Microvillus Inclusion Disease (MVID), caused by loss-of-function mutations in the motor protein Myosin Vb (MYO5B), is a severe infantile disease characterized by diarrhea, malabsorption, and acid-base instability, requiring intensive parenteral support for nutritional and fluid management. "

Therapies and Procedures

1.	Therapeutics 08/01/1986 - "Enteral versus parenteral therapy for intractable diarrhea of infancy: a prospective, randomized trial." 01/29/2023 - "Therapy Development for Microvillus Inclusion Disease using Patient-derived Enteroids." 08/01/1986 - "Enteral therapy is more widely applicable in severe intractable diarrhea of infancy than has been appreciated, and can produce superior results to TPN." 03/01/1986 - "Small bowel biopsies are not likely to be of assistance in determining the prognosis of this disorder and should not be used to determine therapy or to advise parents concerning the likely duration of intractable diarrhea of infancy." 08/01/1983 - "Conventional therapy for intractable diarrhea of infancy, which involves use of clear liquids and gradual reintroduction of cow's milk or formula, works in most situations. "
2.	Transplantation 12/01/2016 - "Microvillus inclusion disease: a subtotal enterectomy as a bridge to transplantation." 03/01/2002 - "We report the anaesthetic management of a 3-year-old-child with microvillus inclusion disease undergoing isolated small bowel transplantation. " 03/01/2002 - "Anaesthetic management of a patient with microvillus inclusion disease for intestinal transplantation." 08/01/2000 - "Treatment of microvillus inclusion disease by intestinal transplantation." 03/01/1994 - "This report presents the first child with microvillus inclusion disease in whom small bowel transplantation has been successful, allowing for the administration of total caloric requirements via the enteral route."
3.	Parenteral Nutrition 12/23/2020 - "Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease." 01/01/1990 - "The recipient was a 39-month-old girl with secretory diarrhea due to microvillus inclusion disease and end-stage liver disease secondary to prolonged parenteral nutrition. " 01/09/2013 - "The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. "
4.	Liver Transplantation 09/01/1998 - "Pretransplant management and small bowel-liver transplantation in an infant with microvillus inclusion disease." 01/01/2021 - "MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis."
5.	Total Parenteral Nutrition 01/01/1987 - "Four patients receiving total parenteral nutrition (TPN) suffered from severe short bowel syndrome and three had intractable diarrhea of infancy. " 07/01/2003 - "The causes of IT were Short Bowel Syndrome (SBS) in 6 and Microvillus Inclusion Disease (MID) in 2. The indication of IT were end stage liver disease (ESLD) in 5 (related to total parenteral nutrition administration, TPN), progressive hepatic fibrosis in 2 and loss of venous access in 1. The patients with ESLD were included for combined liver-small bowel transplantation (LSBT) and the remaining for isolated intestinal transplantation (IIT). "