Hypermethioninemia is an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. Presentation
Genetics
Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.Hypermethioninemia is occasionally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually has one parent with the condition. Pathophysiology
Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions involved in metabolizing methionine 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. The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. This enzyme converts methionine into a compound called S-adenosylmethionine. The GNMT gene provides instructions for making the enzyme glycine N-methyltransferase. This enzyme starts the next step in the process, converting S-adenosylmethionine to a compound called S-adenosyl homocysteine.
Chlordiazepoxide/clidinium bromide (marketed as Librax) is a fixed-dose combination medication used to treat peptic ulcers, irritable bowel syndrome (IBS), and gastritis. It contains chlordiazepoxide and clidinium bromide. It helps relieve stomach spasms, abdominal cramps, and anxiety related to gastric disorders. Librax is a fixed ratio of these two medications and, as such, is not typically prescribed with an accompanying dosage, but rather directions on how many capsules to take per day. It comes in a capsule taken by mouth, usually three or four times daily, before meals and at bedtime. Chlordiazepoxide is an anti-anxiety medication belonging to the benzodiazepine class. Its use in IBS is thought to be due to its calming ability for patients that have IBS symptoms that are worsened by anxiety. Clidinium bromide is a synthetic quaternary ammonium antimuscarinic, a sub-class of a family of drugs known as anticholinergics. It treats IBS by decreasing gastrointestinal motility. Chlordiazepoxide can be habit-forming. Tolerance may develop with long-term or excessive use, making this medication less effective. This medication must be taken regularly to be effective. Stopping the drug suddenly can worsen the condition and cause withdrawal symptoms (anxiousness, sleeplessness, and irritability).It was approved for medical use in the United States in 1966. It is available as a generic medication. Medical uses
Chlordiazepoxide/clidinium bromide is indicated to control emotional and somatic factors in gastrointestinal disorders. It may also be used as adjunctive therapy in the treatment of peptic ulcer and in the treatment of the irritable bowel syndrome (irritable colon, spastic colon, mucous colitis) and acute enterocolitis.