HYPERACIDAMINURIA Meaning and
Definition
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Hyperacidaminuria is a rare metabolic disorder characterized by the excessive excretion of acidic amino acids, particularly lysine and glutamic acid, in urine. It is a condition caused by a deficiency or malfunction of specific enzymes involved in the breakdown and metabolism of these amino acids. As a result, these acidic amino acids accumulate in the body, leading to their increased excretion via urine.
The excessive levels of acidic amino acids can have various detrimental effects on the body. For instance, the accumulation of lysine and glutamic acid can disrupt the normal function of other amino acids in the body, impairing their roles in protein synthesis and neurotransmitter production. This disruption may lead to intellectual disability and developmental delays in affected individuals.
Common symptoms associated with hyperacidaminuria include intellectual disability, impaired cognitive function, delayed speech development, and behavioral issues. Additionally, some individuals may experience seizures and poor muscle tone. These symptoms can appear in infancy or early childhood, and their severity can vary among affected individuals.
Hyperacidaminuria is diagnosed through urine tests that measure the excessive excretion of lysine and glutamic acid. Genetic testing can also identify specific mutations in the genes responsible for the defective enzymes.
Treatment for hyperacidaminuria primarily involves dietary modifications, including the restriction of certain amino acids, particularly lysine. Supplementation with specific nutrients and vitamins may also be recommended to help manage the condition. Additionally, early intervention and supportive therapies such as speech therapy and educational programs can help improve the developmental outcomes for affected individuals.
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Acidaminuria, the passage of an excess of amino acids in the urine.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for HYPERACIDAMINURIA
- hyperacidaminurii
- hyperacidaminurie
- hyperacidaminuric
- hypurracidaminuria
- h yperacidaminuria
- hype racidaminuria
- hyper acidaminuria
- hypera cidaminuria
- hyperac idaminuria
- hyperaci daminuria
- hyperacid aminuria
- hyperacida minuria
- hyperacidam inuria
- hyperacidami nuria
- hyperacidamin uria
- hyperacidaminu ria
- hyperacidaminur ia
- hyperacidaminuri a
Etymology of HYPERACIDAMINURIA
The word "hyperacidaminuria" is a medical term used to describe a condition characterized by elevated levels of certain amino acids (acids containing an amino group) in the urine. The etymology of this word is derived from the following components:
1. "Hyper-" refers to excessive or increased.
2. "Acid" - comes from the Latin word "acidus", meaning sour or acidic.
3. "Amino" - originates from the Latin word "amonus", referring to an organic compound containing an amino group.
4. "-uria" denotes urine.
Therefore, "hyperacidaminuria" can be interpreted as an excessive presence of acidic amino acids in the urine.
