HYPERLYSINEMIA Meaning and
Definition
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Hyperlysinemia is a rare, inherited metabolic disorder that results from the deficiency of an enzyme called lysine-ketoglutarate reductase (LKR). This enzyme is responsible for breaking down the amino acid lysine in the body.
Individuals with hyperlysinemia have abnormally elevated levels of lysine in their blood and tissues. Lysine is an essential amino acid that plays a crucial role in protein synthesis, growth, and tissue repair. However, in hyperlysinemia, excessive amounts of lysine can accumulate in various organs, particularly the brain.
The symptoms of hyperlysinemia can vary widely and may include intellectual disability, seizures, developmental delay, hypotonia (poor muscle tone), facial dysmorphism (abnormal facial features), and behavioral problems. Some affected individuals may also experience organ damage, such as cardiomyopathy (enlarged heart) or renal dysfunction (kidney problems).
Hyperlysinemia is typically diagnosed through newborn screening programs, which assess the levels of various amino acids in the blood of infants. Genetic testing can then confirm the underlying mutation of the LKR gene.
Treatment for hyperlysinemia may involve a low-lysine diet, which restricts the intake of foods high in lysine to reduce its accumulation. Supplementation with specific amino acids may also be necessary to restore the balance of amino acids in the body. Regular monitoring of lysine levels and close medical management are necessary to prevent complications and optimize the individual's health.
Common Misspellings for HYPERLYSINEMIA
- gyperlysinemia
- byperlysinemia
- nyperlysinemia
- jyperlysinemia
- uyperlysinemia
- yyperlysinemia
- htperlysinemia
- hgperlysinemia
- hhperlysinemia
- huperlysinemia
- h7perlysinemia
- h6perlysinemia
- hyoerlysinemia
- hylerlysinemia
- hy-erlysinemia
- hy0erlysinemia
- hypwrlysinemia
- hypsrlysinemia
- hypdrlysinemia
- hyprrlysinemia
Etymology of HYPERLYSINEMIA
The word "Hyperlysinemia" is composed of several components, each with its own etymology:
1. Hyper-: It is a prefix derived from the Greek word "hyper" which means "above" or "extreme".
2. Lysine: It is a noun derived from the Greek word "lysis", meaning "loosening" or "dissolution". Lysine is an essential amino acid commonly found in protein-rich foods.
3. -emia: A suffix of Greek origin meaning "in the blood" or "related to the blood". This suffix is commonly used in medical terminology to refer to a condition or state regarding the presence of a substance in the blood.
Combining these components, the term "hyperlysinemia" refers to a medical condition characterized by excessively high levels of lysine in the blood.
