Mitochondrial Neurogastrointestinal Encephalopathy Disease Overview
Learn About Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen over time.
Variants (also called mutations) in the TYMP gene cause most cases of MNGIE disease. The TYMP gene provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside. After a chemical modification, thymidine is used as a building block of DNA. Thymidine phosphorylase breaks down thymidine into smaller molecules, which helps regulate the level of nucleosides in cells.
The prevalence of MNGIE disease is unknown. Fewer than 200 people with this disorder have been described in the scientific literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Massimiliano Filosto practices in Brescia, Italy. Mr. Filosto is rated as an Elite expert by MediFind in the treatment of Mitochondrial Neurogastrointestinal Encephalopathy Disease. His top areas of expertise are Mitochondrial Neurogastrointestinal Encephalopathy Disease, Primary Lateral Sclerosis, Chronic Inflammatory Demyelinating Polyneuropathy, Pompe Disease, and Liver Transplant.
Bridget Bax practices in London, United Kingdom. Ms. Bax is rated as an Elite expert by MediFind in the treatment of Mitochondrial Neurogastrointestinal Encephalopathy Disease. Her top areas of expertise are Mitochondrial Neurogastrointestinal Encephalopathy Disease, Intestinal Pseudo-Obstruction, MELAS Syndrome, and Oculopharyngeal Muscular Dystrophy.
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Michio Hirano is a Neurologist in New York, New York. Dr. Hirano is rated as an Elite provider by MediFind in the treatment of Mitochondrial Neurogastrointestinal Encephalopathy Disease. His top areas of expertise are Mitochondrial Neurogastrointestinal Encephalopathy Disease, MELAS Syndrome, Progressive External Ophthalmoplegia, and X-Linked Dominant Scapuloperoneal Myopathy.
Published Date: September 20, 2023
Published By: National Institutes of Health