How Do You Spell NEONATAL CITRULLINEMIAS?

1. Neonatal citrullinemias refer to a group of rare genetic disorders that affect the body's ability to break down and eliminate the amino acid citrulline. Citrulline is normally produced as a byproduct of protein metabolism and is subsequently converted into another amino acid called arginine.

   In neonatal citrullinemias, there is a deficiency or malfunctioning of certain enzymes involved in citrulline metabolism, leading to an accumulation of citrulline in the blood and other tissues. This accumulation can have severe consequences on various bodily functions, particularly in newborn infants.

   The symptoms of neonatal citrullinemias usually manifest shortly after birth or within the first few days of life. These may include poor feeding, vomiting, lethargy, seizures, breathing difficulties, and an enlarged liver. If left untreated, the condition can progress rapidly and result in coma or even death.

   Diagnosis of neonatal citrullinemias involves analyzing the levels of citrulline and other amino acids in the blood and urine. Genetic testing may also be performed to identify the specific enzyme deficiency responsible for the disorder.

   Treatment for neonatal citrullinemias typically involves a specialized diet low in protein and certain amino acids, as well as specific medications to help remove excess ammonia from the body. In some cases, liver transplantation may be required to address liver dysfunction. Early diagnosis and intervention are crucial in preventing complications and improving the long-term outlook for affected individuals.

Common Misspellings for NEONATAL CITRULLINEMIAS

The word "neonatal" is derived from the Latin word "neonatus", which means "newborn". It refers to the period immediately after birth.

"Citrullinemias" is a plural form of "citrullinemia", which is a metabolic disorder characterized by the buildup of the amino acid citrulline in the blood. The word "citrullinemia" is derived from the amino acid itself, "citrulline", and the suffix "-emia", which means "in the blood".

Therefore, "neonatal citrullinemias" refers to cases of citrullinemia that occur in newborns or babies in the neonatal period.