Kravtsov DV, Ahsan MK, Kumari V, van Ijzendoorn SC, Reyes Mugica M, Kumar A, Gujral T, Dudeja PK, Ameen NA. Gastroenterology. 15th ed. However, some patients with MVID with late presentation and milder disease have been reported to have mutations in syntaxin 3, a gene for a SNARE protein that is responsible for vesicle fusion with the membrane. MVID has been reported in consanguineous families. Textbook of Gastroenterology. Herschel Dhekne: Pathogenic Mechanisms in Microvillus Inclusion Disease – focus on apical brush border. Conditions with similar signs and symptoms from Orphanet. (VRI), has announced the launch of a new educational video ( link) on microvillus inclusion disease (MVID) – a rare, genetic intestinal disease that causes severe diarrhea in young babies, and it is resistant to treatment. This disorder is apparent during the first few weeks of life and is characterized by an abnormally large number of watery stools containing an excess of chloride. A health care provider may consider these conditions in the table below when making a diagnosis. PMID 27229121, Kravtsov D, Mashukova A, Forteza R, Rodriguez MM, Ameen NA Salas PJ. Parenteral nutrition and small bowel transplantation are the … Most cases become apparent soon after birth, but it is also believed by some that there is a later-onset form that becomes apparent six to eight weeks after birth in infants that, until then, have appeared healthy. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Microvillus inclusion disease (congenital microvillus atrophy), although rare, appears to be the most common cause of congenital intractable watery diarrhea. Information on Clinical Trials and Research Studies, COVID-19 Rapid Response Leadership Series, 5 Myths About Orphan Drugs and the Orphan Drug Act, https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, Genetic and Rare Diseases (GARD) Information Center, NIH/National Institute of Diabetes, Digestive & Kidney Diseases, https://emedicine.medscape.com/article/928100-overview, Office of Communications & Public Liaison. Yamada T, Alpers DH, Owyang C, et al., eds. This condition is characterized by chronic, life-threatening diarrhea beginning in infancy. This does not apply to children with microvillus inclusion disease (MVID). J La State Med Soc. The HPO collects information on symptoms that have been described in medical resources. When considering symptoms of Microvillus Inclusion Disease, it is also important to consider Microvillus Inclusion Disease as a possible cause of other medical conditions. MVID is characterized by severe, large amounts of watery diarrhea appearing at birth or within seventy-two hours. Am J Physiol Gastrointest Liver Physiol. Do you have updated information on this disease? Neal: Microvillus Inclusion Disease, what is that? J Physiol. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Online Mendelian Inheritance In Man (OMIM). Lifelong parenteral nutrition (PN) is necessary from diagnosis, and the outlook is poor. Do you know of a review article? PMID: 25258405. You can find more tips in our guide, How to Find a Disease Specialist. Last Updated: Oct 06, 2017. https://emedicine.medscape.com/article/928100-overview Accessed July 9, 2019. While different medications have been tried to control the severe diarrhea associated with this condition, none of them have proven effective. Eating is the most natural thing in the world. This disease is caused by mutations in the DRA gene and affects absorption of chloride in the distal small intestine and colon. How can we make GARD better? The rarity of this disease, like other orphan diseases, is the cause for minimal research. The Johns Hopkins University. New MVID educational video from Vanessa Research. The disorder usually develops around the third week of life with a rapidly progressive course. Goulet O, Ruemmele F, Lacaille F, et al. 2002;6:235-39. Microvillus Inclusion Disease (MVID) was first described in the literature in 1978 with presentation of severe watery diarrhea, failure to thrive, and metabolic acidosis [].Intractable watery diarrhea typically presents within the first days of life, however there is a milder form of MVID with onset after two to three months of life. NORD gratefully acknowledges Nadia Ameen, MD, Professor Pediatrics, Cellular and Molecular Physiology, Yale University School Medicine, for assistance in the preparation of this report. How might this condition be treated? MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles. These resources provide more information about this condition or associated symptoms. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Contact a GARD Information Specialist. rare disease research! Local doctors have told her that there is no treatment for that rare disease, but we suppose that Western medicine is more developed and there is a solution. https://www.omim.org/entry/251850 Accessed July 9, 2019. The chance for a child to receive working genes from both parents is 25%. (HPO) . In its classic form, the disease is characterized by a severe persistent watery diarrhea starting within the first days of life. Most cases of MVID are caused by mutations in Myo5b. Some researchers believe that it is inherited as an autosomal recessive trait. It occurs as a result of a defective sodium exchange in the small intestine and kidney due to mutations in the NHE3 ion transporter gene. MVID follows an autosomal recessive pattern of inheritance. J Pediatr Gastroenterol Nutr. Till date, only a handful of cases with MVID have been described in English literature. The amount of diarrhea often exceeds that of cholera, and infants will die unless they are given appropriate and often massive amounts of intravenous fluid. The following resources provide information relating to diagnosis and testing for this condition. Congenital sodium diarrhea is inherited in an autosomal recessive pattern. Last Updated: Jan 18, 2017. www.emedicine.com/ped/topic2845/htm Accessed July 9, 2019. It is an autosomal recessive disorder with no sex predisposition and more commonly noted in countries with prevalent consanguineous marriages. Diagnosis is based on intestinal biopsy demonstrating villous atrophy, crypt hypoplasia, and, on electron microscopy, microvillus inclusion … The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. Davidson disease; Microvillus atrophy, congenital; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Davidson disease; Microvillus atrophy, congenital; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Intractable diarrhea of infancy; Congenital familial protracted diarrhea; Congenital microvillous atrophy; Davidson's disease; Familial enteropathy, microvillus, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology The advent of intestinal transplantation has improved the outlook for these patients. The HPO Microvillous inclusion disease is classified within the sub- group of CDDs caused by defects of enterocyte polarization and differentiation7that are due to the dysfunction of myosin Vb protein, an actin filament‐based motor protein that is in- The disorder is usually present at birth and is characterized by profuse watery diarrhea and a swollen abdomen. 1994;106:771-74. Orphanet J Rare Dis. Microvillus Inclusion Disease. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. If you can’t find a specialist in your local area, try contacting national or international specialists. Diarrhea persists even after oral feeding is stopped and does not decrease with age. Microvillous Inclusion Disease (MVID) is one of the congenital diarrheal disorders (CDD) caused by genetic defects in enterocyte differentiation and polarization. Is ideal for patients with a clinical suspicion of early-onset chronic diarrhea, congenital tufting enteropathy / intestinal epithelial dysplasia or microvillus inclusion disease. The differential diagnosis includes rare congenital enteropathies such as autoimmune enteropathy, chloride diarrhea, congenital sodium diarrhea, and congenital tufting enteropathy. Nelson Textbook of Pediatrics. Comparisons may be useful for a differential diagnosis: Lactose intolerance is a malabsorption syndrome that results from impaired absorption of a sugar found in milk (lactose). 1 INTRODUCTION. 2003;35:3052-53. Ultrasound Obstet Gynecol. Please note that the table may not include all the possible conditions related to this disease. Infantile diarrhea with abnormal hair is another malabsorption syndrome with autosomal recessive inheritance. Groisman GM, Amar M, Livne E. CD10: a valuable tool for the light microscopic diagnosis of microvillous inclusion disease (familial microvillous atrophy). You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. Identification of ion transport defects in microvillus inclusion disease. Oliva MM, Perman JA, Saavedra JM, et al. The goal of this oral anti-diarrheal treatment is to restore intestinal function so patients can eat and drink normally. National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 • (203)744-0100. Both present with neonatal diarrhea and lack significant inflammation Bibliography. For most diseases, symptoms will vary from person to person. At Vanessa Research we have patented and will soon begin clinical trials of a drug that has been developed to treat MVID – a treatment that will eliminate life-threatening diarrhea by encouraging immature cells in the intestine to grow normally and restore the absorption of fluids and nutrients. Use the HPO ID to access more in-depth information about a symptom. Microvillus inclusion disease (MVID) is a rare, genetic disease that causes chronic diarrhea in young babies. TPN may be associated with an increased risk of developing blockage of the liver or bile ducts preventing the normal flow of bile (cholestasis) and liver failure. Microvillus Inclusion Disease: Related Medical Conditions. Related diseases are conditions that have similar signs and symptoms. MVID is caused by loss of function changes (mutations) in myosin Vb (Myo5b) gene, a molecular motor gene that is responsible for traffic of proteins into the brush border of epithelial cells. Genetic counseling is recommended for affected individuals and their families. Copyright ©2020 NORD - National Organization for Rare Disorders, Inc. All rights reserved. TEXTBOOKS Kennea NL. Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening intractable diarrhea. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Microvillus inclusion disease, also known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern. Kennea N, Norbury R, Anderson G, et al. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. Hasegawa T, Sasaki T, Kimura T, et al. We remove all identifying information when posting a question to protect your privacy. Soy protein intolerant infants are allergic to soy proteins. Some children with severe disease have been treated with transplantation of a part of the small intestine. The risk is the same for males and females. Black, kinky hair that easily falls out and a lack of normal amino acids is another feature of this syndrome. To research the causes of Microvillus Inclusion Disease, consider researching the causes of these these diseases that may be similar, or associated with Microvillus Inclusion Disease: If we don't have a program for you now, please continue to check back with us. Transplantation. Irreversible intestinal failure. Microvillus inclusion disease is thought to be caused by a basic defect in the cells in the intestinal wall of the small intestine and colon. Submit a new question, I have a good friend who has a 15 year-old son. We want to hear from you. Medscape. Often, they are allergic, not only to soy, but to many other foods. Without enough important nutrients and water, a baby can become severely dehydrated, suffer from malnutrition, and become unable to grow and gain weight normally (failure to thrive). MVID is inherited in an autosomal recessive pattern. 2nd ed. Other treatment is symptomatic and supportive. Questions sent to GARD may be posted here if the information could be helpful to others. Intestinal Transplantation. We want to hear from you. We want to hear from you. Philadelphia, PA; 1996:1097. Microvillus inclusion disease (MVID) is a rare congenital severe malabsorptive and secretory diarrheal disease characterized by blunted or absent microvilli with accumulation of secretory granules and inclusion bodies in enterocytes. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. cause of death is the sepsis. If you do not want your question posted, please let us know. Ruemmele FM, Schmitz J, Goulet O. Microvillus inclusion disease (microvillus atrophy). Microvillus Inclusion Disease is a Congenital Secretory Diarrhea Starting in Neonatal Age. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: Tollfree: (800) 411-1222 TTY: (866) 411-1010 Email: [email protected], Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, For information about clinical trials sponsored by private sources, contact: www.centerwatch.com, For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/, For more information about MVID, contact: Ameen Laboratory-Yale University School of Medicine https://medicine.yale.edu/lab/ameen/. This table lists symptoms that people with this disease may have. General Discussion. Patients with MVID also display carbohydrate malabsorption because of lack of development of the intestinal brush border. Microvillus inclusion disease (MVID) is a rare genetic disease of the intestine that causes severe diarrhea and an inability to absorb nutrients. Gambarara M, Diamanti A, Ferretti F, et al. Dunn CP, Friedmann JC, Prowse O and Greenstein SM. Before a biopsy is performed, other causes of dehydration and diarrhea in infants are ruled out. Entry Number: 251850. Familial chloride diarrhea or congenital chloride diarrhea (CCD) is a malabsorption syndrome with autosomal recessive inheritance. You may want to review these resources with a medical professional. Chronic diarrhea in infancy and childhood. Lactase, maltase, isomaltase, and sucrase usually split complex sugars into simple sugars. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The final reference list was generated on the basis of originality and relevance to the broad scope of this review. The diarrhea often results in life-threatening complications, specifically severe dehydration and metabolic acidosis, which may cause kidney failure, requiring the infant to be hospitalized. All individuals carry a few abnormal genes. 2004;38:16-26. Ruemmele FM, Jan D, Lacaille F, et al. They live in Russia. Successful intestinal transplantation for microvillus inclusion disease. It usually starts soon after birth and is one of a group of disorders termed congenital diarrheas. MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. No effective drug treatment is available. Guandalini S, Nocerino A. Congenital Microvillus Atrophy. People with the same disease may not have Behrman RE, Kliegman RM, Arvin AM., eds. There may also be related weight loss, growth retardation and developmental delay. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. It is characterized by severe unexplained diarrhea, low birth weight and large, low-set, simple ears, flat nasal bridge, and large mouth. Our data indicate that MYO5B mutations are a major cause of microvillus inclusion disease and that MYO5B knock-down recapitulates most of the cellular phenotype in vitro, thus independently showing loss of MYO5B function as the cause of microvillus inclusion disease. Medscape. “Our team worked very hard toward getting an orphan drug status for Shylicine™. Making a diagnosis for a genetic or rare disease can often be challenging. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. Microvillous inclusion disease (MVID), also known as congenital microvillus atrophy, was first described by Davidson et al. is updated regularly. Congenital microvillus inclusion disease presenting as antenatal bowel obstruction. Symptoms of the following disorders can be similar to those of microvillus inclusion disease. Microvillus inclusion disease is inherited as an autosomal recessive genetic trait. We want to hear from you. The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Saunder Company. What causes Microvillus Inclusion Disease? What causes the disease and why does it affect infants and does it only affect infants? Lactose intolerance is characterized by diarrhea and abdominal distention causing stomach pain and gas (flatulence) that occurs after drinking milk. Do you have more information about symptoms of this disease? This section provides resources to help you learn about medical research and ways to get involved. See answer, If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. The specific genetic mutation involved has not yet … Intractable diarrhea of infancy with congenital intestinal mucosa abnormalities: outcome of four cases. NORD is a registered 501(c)(3) charity organization. New perspectives for children with microvillus inclusion disease: early small bowel transplantation. Online directories are provided by the. However, chronic TPN carries with it high risks of infection (sepsis), liver damage and other organ disorders. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. Pediatr Transplant. Am. Fewer than 100 cases of MVID have been reported in the medical literature. Recent studies have identified kinase drug targets that await development based on defects in kinase signaling pathways in MVID. 2010; 31 : 544-551 Crossref Infants affected by this disorder require total intravenous hydration and total parenteral nutrition (TPN). J Pediatr Gastroenterol Nutr. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. NORD strives to open new assistance programs as funding allows. Microvillus inclusion disease (MVID) is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. MVID was first described in the medical literature in 1978. A lack of one or more intestinal enzymes results in an inability to digest certain carbohydrates. Microvillus inclusion disease is a rare pediatric disorder that causes chronic diarrhea. Read more Philadephia, PA; 1995:1669. Microvillus inclusion disease is inherited in an autosomal recessive manner. In addition to these tests, doctors will perform genetic testing to see whether there are any differences in the genes known to cause MVID and other congenital diarrheas. They may be able to refer you to someone they know through conferences or research efforts. Microvillus Inclusion Disease Synonyms of Microvillus Inclusion Disease. Introduction. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. Severe diarrhea typically appears in the first days of life, usually within the first 72 h, and it is immediately life threatening. 1. Research Portfolio Online Reporting Tool (RePORT), Online Mendelian Inheritance in Man (OMIM). Vanessa Research. Philadelphia, PA. 2003:351. In: NORD Guide to Rare Disorders. It is presented a case of congenital diarrhea iden-tified as microvillus inclusion disease of neonatal pre-sentation and its evolution. In one review, 74% of affected infants died before 9 months of age (1). Microvillus Inclusion Disease. You can help advance This information comes from a database called the Human Phenotype Ontology 2001;17:172-74. 2014 Nov 15; 307(10): G992–G1001. Genetic testing is available and can confirm the diagnosis. McKusick VA, ed. Is a 29 gene panel that includes assessment of non-coding variants. In patients with lactose intolerance, the enzyme, lactase, which digests this sugar in the small bowel, is lacking. The diagnosis of MVID may be based upon electron microscopy of a tissue sample (biopsy) from the intestine of an ailing child, which depicts microscopic findings of brush border defects in the villus in association with microvillus inclusions (MIs) usually in villus enterocytes characteristic of the disorder. Using electron microscopy, doctors can detect the main features of microvillus inclusion disease, which are tiny but distinct differences in the cells of the small intestine. Microvillus inclusion disease (MVID; OMIM 251850) is a rare, usually fatal hereditary enteropathy characterized by quite remarkable, complex ultrastructural alterations (see References 1, 2 for the original descriptions and Reference 3 for a review). (c) 2010 Wiley-Liss, Inc. Transplant Proc. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright. 2004;77:1024-28. This nutrient is normally absorbed in the small bowel. Hum Mutat. Clinical case 36-weeks preterm born male infant with 27-years old first-time mom, with gestational diabetes and no others pathologic histories during the pregnancy. Myosin 5b loss of function leads to defects in polarized signaling: Implication for microvillus inclusion disease pathogenesis and treatment. Microvillus inclusion disease (MVID) is an extremely rare inherited intestinal disorder... Signs & Symptoms. Sherman PM, Mitchell DJ, Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. More than 40 mutations in the MYO5B gene have been found to cause microvillus inclusion disease. Microvillous inclusion disease (MVID) is a congenital defect of the intestinal epithelial brush border leading to severe intractable diarrhea of infancy. Its prevalence is higher in countries with a high degree of consanguinity. Treatment of MVID is accomplished through intravenous feeding called total parenteral nutrition (TPN). Diarrhea often worsens after feeding because of malabsorption of necessary nutrients. Mehta DI, Blecker U. Lippincott Williams & Wilkins. Please note that NORD provides this information for the benefit of the rare disease community. The boy suffers from microvillus inclusion disease. They have complex nutritional problems and should be distinguished from those with sensitivity to common food proteins such as cow’s milk, egg and peanuts. Infants born with this disorder are often premature. If you have questions about getting a diagnosis, you should contact a healthcare professional. Microvillus inclusion disease. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. June 28, 2018 – Hamden, Connecticut. Management is difficult and relies on total parenteral nutrition. Therefore, the affected child must be carefully monitored by a physician. 2004;38:250-69. all the symptoms listed. The in-depth resources contain medical and scientific language that may be hard to understand. Microvillous inclusion disease (MVID) is a cause of intractable diarrhea in infancy. 2006;1:22. I mentioned that it causes infants to have severe diarrhea. (HPO). Last Edit Date; 11/05/2018. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or degeneration (atrophy) of surface cells of the wall of the small intestine (e.g., hypoplastic villus atrophy, defective brush-border assembly and differentiation). J. 2016; Jul 1, 311: G142–G155. Cae- Liver disease and cholestatis can also occur independent of TPN due to the genetic defect in bile duct cells. Symptoms of a rare late onset form may not occur until two or three months after birth. MVID affects more females than males with a sex ratio of about 2:1. Effects of isolated small bowel transplantation on liver dysfunction caused by intestinal failure and long term total parenteral nutrition. W.B. [1] [2] Last updated: 10/5/2011. The true prevalence of this disorder is unknown. There is no cure for Microvillus Inclusion Disease. The MYO5B gene mutations that cause this condition result in a decrease or absence of myosin Vb function. 1998;150:419-29. Infants with MVID may have chronic diarrhea and malabsorption may result in severe dehydration, deficiency of necessary nutrients (malnutrition), a failure to grow and gain weight at the expected rate (failure to thrive), and/or disturbance of the body's balance of acids and bases, which is essential in regulating the body's composition of bodily fluids (acidosis). New research and comprehensive resources for patients with microvillus inclusion disease. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. To search for patient organizations and other pages related to this topic, use the Advanced Search function at the top right corner of the page. in 1978. Percent of people who have these symptoms is not available through HPO, To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. By diarrhea and a swollen abdomen and other organ disorders after feeding because malabsorption! After feeding because of lack of myosin Vb function changes the cell polarity find resources that can you! People with this condition result in a decrease or absence of myosin Vb.. Disease is a malabsorption syndrome with autosomal recessive genetic disorders occur when an individual inherits a non-working from... Yet … 1 INTRODUCTION intestine ( enterocytes ), Online Mendelian inheritance in (. Falls out and a swollen abdomen very hard toward getting an orphan drug status Shylicine™... Cause this condition helpful to others outcome of four cases some children with microvillus inclusion disease ( MVID ) a... Relating to diagnosis and testing for this condition result in a decrease or absence of myosin Vb function changes cell. The rare disease community diarrhea associated with this disease carbohydrate malabsorption because of lack of one or more enzymes. Have similar Signs and symptoms, ruemmele F, et al NORD national! Microvillous inclusion disease: early small bowel transplantation on liver dysfunction caused mutations! Man ( OMIM ) a healthcare professional infection ( sepsis ), known! Alpers DH, Owyang c, et al causes severe diarrhea and a swollen abdomen disease may have. In a decrease or absence of myosin Vb function Kliegman RM, Arvin AM. eds... 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