TYROSINURIA Meaning and
Definition
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Tyrosinuria is a medical condition characterized by the presence of excessive amounts of tyrosine in the urine. Tyrosine is an amino acid that is essential for the production of various neurotransmitters and hormones, as well as the synthesis of proteins in the body. It is normally metabolized by a series of enzymatic reactions, with any excess being eliminated through the urine.
Tyrosinuria can be caused by a genetic defect in one of the enzymes involved in the breakdown of tyrosine, leading to impaired metabolism and accumulation of the amino acid in the body. This condition is known as hereditary tyrosinemia, and it can manifest in different forms with varying degrees of severity.
Symptoms of tyrosinuria can include liver dysfunction, kidney problems, failure to thrive, developmental delay, intellectual disability, and neurological abnormalities. Infants with the condition may exhibit poor feeding, vomiting, and diarrhea, which can lead to failure to gain weight. Additionally, their urine may have a distinct odor due to the presence of excess tyrosine.
The diagnosis of tyrosinuria is typically confirmed through laboratory tests, including urine analysis and blood tests to measure the levels of tyrosine and related substances. Genetic testing may also be performed to identify specific mutations in the relevant genes associated with tyrosinuria.
Treatment for tyrosinuria generally requires a strict dietary regimen that restricts the intake of tyrosine and its precursor amino acids. This usually involves the avoidance of high-protein food sources, as well as the supplementation of specific vitamins and minerals to support healthy metabolism. In severe cases, liver transplantation may be necessary to address liver dysfunction. Regular monitoring and ongoing management are essential to prevent complications and optimize long-term outcomes for individuals with tyrosinuria.
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The excretion of tyrosin in the urine.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for TYROSINURIA
Etymology of TYROSINURIA
The word "tyrosinuria" is composed of two parts: "tyrosin" and "uria".
"Tyrosin" is derived from the Greek word "tyros", which means "cheese". This is because tyrosine, the amino acid involved in tyrosinuria, was initially identified in cheese. The suffix "-in" is often added to indicate a substance or a derivative. Thus, "tyrosin" refers to the amino acid tyrosine itself.
The second part of the word, "uria", is derived from the Greek word "ouron", which means "urine". The suffix "-uria" is common in medical terminology to denote a condition or presence of a substance in the urine.
Therefore, "tyrosinuria" literally means "tyrosine in the urine" or the presence of tyrosine in abnormal quantities in the urine.
