LYSINEMIA Meaning and
Definition
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Lysinemia is a medical condition characterized by an elevated concentration of lysine, an essential amino acid, in the blood. It is a rare genetic disorder caused by a deficiency of the enzyme lysine-ketoglutarate reductase (LKR), which plays a crucial role in the breakdown of lysine in the body.
Individuals with lysinemia typically experience an accumulation of lysine in various tissues, organs, and fluids, leading to a range of symptoms and health problems. These may include cognitive impairment, hyperactivity, developmental delays, intellectual disability, seizures, muscle weakness, and problems with feeding and growth.
The diagnosis of lysinemia is usually confirmed through blood tests that detect abnormally high levels of lysine. Genetic testing can also be conducted to identify specific mutations in the LKR gene that cause the disorder.
Treatment for lysinemia mainly involves dietary modifications to restrict the intake of lysine-rich foods and supplementing with specialized formulas that are low in lysine. This approach aims to prevent the accumulation of lysine and manage the symptoms associated with the condition. Regular monitoring of blood lysine levels is essential to ensure that they remain within the target range.
While lysinemia is a rare disorder, early diagnosis and proper management can significantly improve an affected individual's developmental outcome and quality of life. Collaborative efforts between healthcare professionals, genetic counselors, and support groups play an important role in providing comprehensive care and support to individuals with lysinemia and their families.
Common Misspellings for LYSINEMIA
- kysinemia
- pysinemia
- oysinemia
- ltsinemia
- lgsinemia
- lhsinemia
- lusinemia
- l7sinemia
- l6sinemia
- lyainemia
- lyzinemia
- lyxinemia
- lydinemia
- lyeinemia
- lywinemia
- lysunemia
- lysjnemia
- lysknemia
- lysonemia
Etymology of LYSINEMIA
The word "lysinemia" is derived from two Greek roots: "lysinē" meaning "to loosen" or "to release" and "haima" meaning "blood". "Lysinemia" refers to a group of metabolic disorders characterized by the accumulation of particular amino acids in the blood.
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