HYPERPIPECOLIC ACIDEMIA Meaning and
Definition
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Hyperpipecolic acidemia is a rare genetic disorder characterized by the inability of the body to properly metabolize a specific amino acid called pipecolic acid. Pipecolic acid is derived from the breakdown of an important fatty acid called phytanic acid, which is found in certain foods such as dairy products and meat.
In individuals with hyperpipecolic acidemia, there is a deficiency or dysfunction of enzymes involved in the breakdown of pipecolic acid. As a result, pipecolic acid accumulates in the body, leading to a variety of harmful effects.
Symptoms of hyperpipecolic acidemia may vary depending on the severity of the condition, but often include developmental delays, intellectual disability, seizures, and muscle weakness. Additionally, affected individuals may also experience liver dysfunction and abnormal facial features.
Diagnosis of hyperpipecolic acidemia is typically made through specialized laboratory testing that detects elevated levels of pipecolic acid in the blood or urine. Genetic testing may also be done to confirm the specific gene mutations responsible for the disorder.
Treatment for hyperpipecolic acidemia is focused on managing the symptoms and preventing complications. This may involve a specialized diet low in phytanic acid and pipecolic acid to limit their accumulation in the body. Additionally, certain medications may be prescribed to help manage seizures or other associated symptoms.
Overall, hyperpipecolic acidemia is a rare and complex metabolic disorder that requires multidisciplinary medical care and ongoing monitoring to optimize the quality of life for affected individuals.
Common Misspellings for HYPERPIPECOLIC ACIDEMIA
- gyperpipecolic acidemia
- byperpipecolic acidemia
- nyperpipecolic acidemia
- jyperpipecolic acidemia
- uyperpipecolic acidemia
- yyperpipecolic acidemia
- htperpipecolic acidemia
- hgperpipecolic acidemia
- hhperpipecolic acidemia
- huperpipecolic acidemia
- h7perpipecolic acidemia
- h6perpipecolic acidemia
- hyoerpipecolic acidemia
- hylerpipecolic acidemia
- hy-erpipecolic acidemia
- hy0erpipecolic acidemia
- hypwrpipecolic acidemia
- hypsrpipecolic acidemia
- hypdrpipecolic acidemia
- hyprrpipecolic acidemia
Etymology of HYPERPIPECOLIC ACIDEMIA
The word "Hyperpipecolic Acidemia" is a compound term that consists of three main components: "hyper-", "pipecolic acid", and "-emia".
1. "Hyper-" is a prefix derived from the Greek word "huper", meaning "over" or "beyond". In medical terminology, it is used to indicate excessive or high levels of a certain substance in the body.
2. "Pipecolic acid" refers to a molecule known as 2-piperidinecarboxylic acid, which is a naturally occurring substance in the body. It is involved in the metabolism of certain amino acids and fatty acids.
3. "-emia" is a suffix that also comes from Greek and means "in the blood". It is used in medical terminology to denote the presence of a substance or condition in the blood.
