CITRULLINEMIA Meaning and
Definition
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Citrullinemia is a rare genetic disorder that affects the metabolism of the amino acid citrulline. It is characterized by an inability of the body to properly break down and eliminate citrulline, leading to an accumulation of this substance in the blood and tissues.
The condition is inherited in an autosomal recessive manner, with both parents having to be carriers of the defective gene for their child to be affected. This means that individuals with only one copy of the gene are carriers and typically have no symptoms.
Symptoms of citrullinemia often become apparent in infancy or early childhood and can vary in severity. They might include poor appetite, vomiting, lethargy, seizures, developmental delays, and intellectual disability. A distinctive feature of citrullinemia is the characteristic odor of ammonia on the breath and in bodily fluids.
Citrullinemia can be diagnosed through blood tests that measure the levels of citrulline and other amino acids. Genetic testing can confirm the presence of mutations in the genes responsible for this disorder.
Treatment usually involves dietary modifications, such as reducing protein intake, and the supplementation of certain nutrients. Medications may also be prescribed to help remove excess ammonia from the blood. In severe cases, liver transplantation might be necessary.
Early diagnosis and treatment of citrullinemia are crucial to prevent complications and improve long-term outcomes. Regular monitoring and management of the condition by a team of specialists, including geneticists, metabolic specialists, and dietitians, are typically required.
Common Misspellings for CITRULLINEMIA
- xitrullinemia
- vitrullinemia
- fitrullinemia
- ditrullinemia
- cutrullinemia
- cjtrullinemia
- cktrullinemia
- cotrullinemia
- c9trullinemia
- c8trullinemia
- cirrullinemia
- cifrullinemia
- cigrullinemia
- ciyrullinemia
- ci6rullinemia
- ci5rullinemia
- citeullinemia
- citdullinemia
- citfullinemia
- cittullinemia
Etymology of CITRULLINEMIA
The word "Citrullinemia" is derived from two main components: "citrulline" and "-emia".
Citrulline is a non-essential amino acid that is produced as an intermediate in the urea cycle, a metabolic pathway that takes place in the liver. It was first isolated from watermelon (Citrullus lanatus) by scientists in 1914, hence the name "citrulline".
The suffix "-emia" comes from the Greek word "haima", meaning blood. In medical terminology, it is used to denote a presence of a substance or condition in the blood. For example, hypernatremia refers to high levels of sodium in the blood.
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