PERIODIC HYPERLYSINEMIAS Meaning and
Definition
-
Periodic Hyperlysinemias are a group of rare genetic disorders characterized by abnormally high levels of the amino acid lysine in the blood. Lysine is an essential amino acid that plays crucial roles in protein synthesis and the overall functioning of the body. However, in individuals with periodic hyperlysinemias, the body is unable to properly regulate lysine levels, leading to an accumulation of this amino acid.
These conditions are classified as "periodic" due to the episodic nature of the symptoms, which means that affected individuals experience episodes of elevated lysine levels interspersed with periods of normal lysine levels. The frequency, duration, and severity of these episodes can vary widely among affected individuals.
During these hyperlysinemic episodes, individuals may experience a range of symptoms. These can include developmental delays, intellectual disability, seizures, muscle weakness, abnormal movements, and behavioral problems. In some cases, affected individuals may also exhibit characteristic facial features and skeletal abnormalities.
Periodic hyperlysinemias are caused by mutations in particular genes that are involved in the metabolism of lysine. The specific gene mutations determine the type of periodic hyperlysinemia an individual has, such as Saccharopinuria or Lysinuric Protein Intolerance. Diagnosis of these conditions involves blood tests to measure lysine levels and genetic testing to identify the specific gene mutation.
Treatment typically involves managing lysine levels through dietary restrictions. This may involve limiting dietary lysine intake and supplementing with other amino acids to maintain a balance. Additionally, symptomatic treatment is provided to manage specific symptoms and associated complications.
Common Misspellings for PERIODIC HYPERLYSINEMIAS
- oeriodic hyperlysinemias
- leriodic hyperlysinemias
- -eriodic hyperlysinemias
- 0eriodic hyperlysinemias
- pwriodic hyperlysinemias
- psriodic hyperlysinemias
- pdriodic hyperlysinemias
- prriodic hyperlysinemias
- p4riodic hyperlysinemias
- p3riodic hyperlysinemias
- peeiodic hyperlysinemias
- pediodic hyperlysinemias
- pefiodic hyperlysinemias
- petiodic hyperlysinemias
- pe5iodic hyperlysinemias
- pe4iodic hyperlysinemias
- peruodic hyperlysinemias
- perjodic hyperlysinemias
- perkodic hyperlysinemias
- peroodic hyperlysinemias
Etymology of PERIODIC HYPERLYSINEMIAS
The word "Periodic Hyperlysinemias" is a medical term and, as such, its etymology can be broken down as follows:
1. Periodic: This adjective originated from the Latin word "periodus" which came from the Greek word "periodos", meaning "a going around" or "cycle". It refers to something that occurs or repeats at regular intervals or in a cyclical manner.
2. Hyperlysinemias: This noun is composed of two parts - "hyper-" and "lysinemia".
- "Hyper-" comes from the Greek word "huper" meaning "over" or "excessive". It is commonly used as a prefix to indicate an abnormal or increased state or condition.
