How Do You Spell NEONATAL CITRULLINEMIA?

1. Neonatal citrullinemia is a rare metabolic disorder that is characterized by the body's inability to break down the amino acid citrulline. It is an autosomal recessive disorder, meaning that both parents must carry a defective gene for the condition to be passed on to their child.

   Individuals with neonatal citrullinemia lack the enzymatic activity of argininosuccinate synthetase, an important enzyme involved in the urea cycle. As a result, toxic levels of ammonia build up in the body, leading to a variety of symptoms.

   Symptoms of neonatal citrullinemia typically appear shortly after birth and can include poor feeding, vomiting, lethargy, seizures, and an enlarged liver. If left untreated, the condition can progress rapidly and lead to severe brain damage, coma, and potentially death.

   A diagnosis of neonatal citrullinemia is typically confirmed through the measurement of citrulline levels in the blood or urine and genetic testing to identify mutations in the ASS1 gene.

   Treatment for neonatal citrullinemia involves dietary modifications, such as reducing protein intake and providing essential amino acids, along with medications that help remove excess ammonia from the body. Early diagnosis and prompt treatment are crucial in managing the condition and preventing complications.

   In summary, neonatal citrullinemia is a metabolic disorder characterized by the body's inability to break down citrulline, leading to toxic levels of ammonia. Prompt diagnosis and treatment are essential in managing the condition and preventing severe complications.

Common Misspellings for NEONATAL CITRULLINEMIA

The word "neonatal citrullinemia" can be broken down into two parts: "neonatal" and "citrullinemia".

1. Neonatal: The term "neonatal" originated from Greek roots. "Neo" meaning "new" or "recent" and "natal" which comes from the Latin word "natalis" meaning "birth". Therefore, "neonatal" refers to the period shortly after birth.

2. Citrullinemia: The term "citrullinemia" is derived from the word "citrulline", which is an amino acid involved in the urea cycle. The suffix "-emia" refers to a condition or presence of substances in the blood. Therefore, "citrullinemia" is a metabolic disorder characterized by elevated levels of citrulline in the blood.