Learn About Hypermethioninemia
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.
Primary hypermethioninemia that is not associated with other metabolic disorders can be caused by variants (also known as mutations) in the MAT1A, GNMT, or AHCY gene. These genes provide instructions for making enzymes that each carry out one step of the multistep process to break down methionine. The reactions involved help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes.
Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms.
Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Mayara Soares practices in Pelotas, Brazil. Soares is rated as an Elite expert by MediFind in the treatment of Hypermethioninemia. Their top areas of expertise are Hypermethioninemia, Memory Loss, Bipolar Disorder (BPD), and Abdominal Obesity Metabolic Syndrome.
Frank Tortorice is a primary care provider, practicing in Internal Medicine in San Mateo, California. Dr. Tortorice is rated as a Distinguished provider by MediFind in the treatment of Hypermethioninemia. His top areas of expertise are Hypermethioninemia, Sulfite Oxidase Deficiency, Methylmalonic Acidemia with Homocystinuria, and Inborn Amino Acid Metabolism Disorder. Dr. Tortorice is currently accepting new patients.
Carlisle Neurocare
Mohammad K. Ismail, MD, specializes in neurology and is board-certified in neurology by the American Board of Psychiatry and Neurology. He is affiliated with UPMC Community Osteopathic, UPMC Hanover, UPMC Lititz, UPMC Memorial, UPMC Carlisle, UPMC West Shore and UPMC Pinnacle Harrisburg. Dr. Ismail completed his fellowship at Fairview Hospital Healthcare Services, residency at Fairview University of Minnesota Hospital and Clinic and medical degree at Quaid-e-Azam Medical College. Dr. Ismail is rated as an Advanced provider by MediFind in the treatment of Hypermethioninemia. His top areas of expertise are Dementia, Seizures, Memory Loss, and Sulfite Oxidase Deficiency.
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Published Date: August 06, 2021
Published By: National Institutes of Health