ALCAPTONURIA Meaning and
Definition
-
Alcaptonuria is a rare genetic disorder characterized by the body's inability to properly metabolize the amino acids phenylalanine and tyrosine. This metabolic condition results in the accumulation of homogentisic acid, a precursor to melanin, which is excreted in urine. The accumulation of homogentisic acid causes the urine to darken and, upon exposure to air, turn brown or black.
The primary symptoms of alcaptonuria include darkened urine, particularly upon air exposure, and a dark pigmentation of the connective tissues and cartilage, leading to a bluish-black discoloration called ochronosis. Most individuals with alcaptonuria do not experience significant health problems related to the disorder, although ochronosis can lead to joint and bone issues, such as arthritis and spinal problems.
Alcaptonuria is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. Mutations in the HGD gene, which encodes the enzyme responsible for breaking down homogentisic acid, are responsible for alcaptonuria. Genetic testing and analysis of urine samples can confirm the diagnosis of alcaptonuria.
While there is no cure for alcaptonuria, management of the disorder focuses on symptomatic treatment and prevention of complications. This may include monitoring of joint health, physical therapy, pain management, and lifestyle modifications. Early intervention and regular monitoring can help mitigate the impact of alcaptonuria on an individual's quality of life.
Common Misspellings for ALCAPTONURIA
- zlcaptonuria
- slcaptonuria
- wlcaptonuria
- qlcaptonuria
- akcaptonuria
- apcaptonuria
- aocaptonuria
- alxaptonuria
- alvaptonuria
- alfaptonuria
- aldaptonuria
- alczptonuria
- alcsptonuria
- alcwptonuria
- alcqptonuria
- alcaotonuria
- alcaltonuria
- alca-tonuria
- alca0tonuria
Etymology of ALCAPTONURIA
The word "alcaptonuria" is derived from three components: alcapton, uria, and the combining form "a-".
The term "alcapton" originates from the Latin word "alkapton", which refers to a substance that darkens upon exposure to air. It was coined by Sir Archibald Edward Garrod, an English physician and one of the pioneers of human genetics. "Alcapton" specifically refers to a metabolic product called homogentisic acid, which accumulates in the urine of individuals with alcaptonuria.
The suffix "-uria" comes from the ancient Greek word "ouron", meaning urine. "-uria" is commonly used in medical terminology to denote various conditions or diseases related to the urine.
The prefix "a-" in "alcaptonuria" is a negation prefix used in Greek and Latin, meaning "away from" or "without".
Similar spelling word for ALCAPTONURIA
Infographic
Add the infographic to your website:
