How Do You Spell CITRULLINURIAS?

1. Citrullinurias refer to a group of inborn errors of metabolism characterized by impaired citrulline metabolism and the subsequent buildup of citrulline in the body. Citrulline is an amino acid produced during the breakdown of other amino acids, primarily ornithine and arginine. In individuals with citrullinuria, enzymes responsible for converting citrulline into arginine or ornithine are deficient or dysfunctional, leading to the accumulation of citrulline in various tissues and body fluids.

   There are several types of citrullinurias, including argininosuccinate synthase (ASS) deficiency, ornithine transcarbamylase (OTC) deficiency, and citrullinemia type I and type II. Symptoms of citrullinurias may vary depending on the specific type but commonly include lethargy, poor appetite, vomiting, seizures, abnormal behavior, and intellectual disability.

   The diagnosis of citrullinurias typically involves measuring citrulline levels in plasma and/or urine through specialized laboratory testing. Treatment for citrullinurias mainly focuses on dietary management, which involves avoiding foods high in protein and providing specific formulas or supplements to ensure adequate nutrition. Additionally, certain medications may be used to help remove excess ammonia from the body.

   As a result of early detection and proper management, the prognosis of citrullinurias has significantly improved, although complications such as liver damage and neurological impairments may still occur in severe cases. Regular monitoring and close collaboration with healthcare professionals specialized in metabolic disorders are crucial in managing citrullinurias effectively.

Common Misspellings for CITRULLINURIAS

The word "Citrullinurias" is derived from two main components, "citrullin" and "urias".

"Citrullin" refers to citrulline, which is an amino acid. The term "citrulline" itself comes from the Latin word "citrullus", meaning "watermelon", as citrulline was first isolated from watermelon in 1930.

The second component, "-urias", is derived from the Greek word "ouron", meaning "urine". It is commonly used as a suffix to indicate a condition or disease related to urine or metabolic disorders.

Therefore, "Citrullinurias" is a plural form indicating a group of metabolic diseases characterized by the accumulation of citrulline in the urine.