The spelling of the word "acystineuria" may seem complicated at first glance, but it can be broken down using IPA phonetic transcription. The word begins with the "a" sound, followed by "s" and "i" sounds. The "y" can be represented with the IPA symbol for the "j" sound, while "stineu" can be broken down into "s" and "tineu" which is pronounced as "tɪnju." The final syllable, "ria," is pronounced as "riə." Therefore, "acystineuria" is pronounced as "əˌsɪs.tɪˈnju.riə."
Acystinuria is a rare genetic disorder that affects the metabolism of the amino acid cysteine. It is characterized by the inability of the body to properly break down and utilize cysteine, leading to its excess accumulation in the urine.
Cysteine is an essential amino acid needed for the normal growth and development of the body. In people with acystinuria, a specific enzyme called cystine-degrading protein is defective or absent. This enzyme is responsible for converting cysteine into a compound called cystine. As a result, cysteine is not properly converted and is excreted into the urine in high amounts.
The excessive cystine in the urine can lead to the formation of cystine stones in the kidneys or bladder. These stones can cause various symptoms including abdominal pain, blood in the urine, recurrent urinary tract infections, and blockage of the urinary tract.
Acystinuria is usually diagnosed through urine analysis or genetic testing. Treatment typically involves managing symptoms and preventing the formation of cystine stones. This may include increasing fluid intake to promote urine flow, medication to reduce cystine levels in the urine, and dietary modifications to limit cysteine intake.
Early diagnosis and appropriate management of acystinuria are important to prevent complications and improve the overall quality of life for individuals with this condition. Regular monitoring and follow-up with healthcare professionals specializing in metabolic disorders are necessary to ensure effective management and prevention of complications associated with acystinuria.
Absence of nervous control of the bladder.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "acystineuria" is derived from a combination of Latin and ancient Greek roots.
The term can be broken down into three parts:
1. "a-" is a prefix in Latin that typically means "without" or "lacking".
2. "cystin" is derived from "cystine", which is an amino acid found in the body. It comes from the Greek word "kystis", meaning "bladder" or "cyst".
3. "-uria" is a suffix used in medical terminology to indicate the presence of a substance in the urine. It is derived from the Greek word "ouron", meaning "urine".
Therefore, "acystineuria" can be translated to mean "the absence of cystine in the urine".