ALKAPTONURIA Meaning and
Definition
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Alkaptonuria is a rare inherited metabolic disorder that affects the body's ability to break down certain amino acids, specifically phenylalanine and tyrosine. It is caused by a mutation in the HGD gene, which results in a deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD). This enzyme is responsible for breaking down homogentisic acid (HGA), a byproduct of phenylalanine and tyrosine metabolism.
In individuals with alkaptonuria, the deficient HGD enzyme leads to a buildup of HGA in the body. As a consequence, HGA is excreted in the urine and can also accumulate in other tissues, leading to distinctive symptoms. One of the most notable characteristics of alkaptonuria is the darkening of urine upon exposure to air, giving it a black or dark brown color. This is due to the oxidation of HGA, which forms a pigment called ochronosis.
Over time, the accumulation of HGA can cause ochronotic pigmentation in connective tissues, leading to joint stiffness and degenerative arthritis. Other symptoms may include darkening of the skin, particularly in ear cartilage, nails, and sclerae. Some individuals may also experience kidney stones or have an increased risk of developing heart-related complications.
While alkaptonuria is a lifelong condition with no cure, treatment primarily focuses on managing symptoms and ensuring early diagnosis to prevent complications. Regular monitoring, dietary modifications, and medication may be recommended to mitigate the impact of the disorder.
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The presence of alkapton in the urine; it occurs often over large periods of time or recurs at irregular intervals, and is sometimes associated with ochronosis.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for ALKAPTONURIA
- zlkaptonuria
- slkaptonuria
- wlkaptonuria
- qlkaptonuria
- akkaptonuria
- apkaptonuria
- aokaptonuria
- aljaptonuria
- almaptonuria
- allaptonuria
- aloaptonuria
- aliaptonuria
- alkzptonuria
- alksptonuria
- alkwptonuria
- alkqptonuria
- alkaotonuria
- alkaltonuria
- alka-tonuria
Etymology of ALKAPTONURIA
The word "alkaptonuria" is derived from several components:
1. "Alk" - This comes from the term "alkali" or "alkaline", referring to substances that are basic or have a pH greater than 7.
2. "Pton" - This derives from the Greek word "ptōn", meaning "urine".
3. "Uria" - This is a suffix in medicine that refers to a condition or disease related to urine.
Therefore, "alkaptonuria" can be broken down as follows:
- "Alk" refers to the potential presence of alkali in the urine.
- "Pton" refers specifically to urine.
- "Uria" indicates a condition or disease related to urine.
In summary, "alkaptonuria" describes a condition in which urine contains alkali or alkaline substances.
Similar spelling word for ALKAPTONURIA
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