How Do You Spell CLASSICAL CITRULLINEMIA?

Pronunciation: [klˈasɪkə͡l sˌɪtɹəla͡ɪnˈiːmi͡ə] (IPA)

The word "Classical Citrullinemia" is a mouthful, with a total of 22 letters! The spelling can be explained using the International Phonetic Alphabet (IPA). "Classical" is pronounced as /ˈklæsɪkəl/, with the first syllable sounding like "class" and the second syllable pronounced with a short "i" sound. "Citrullinemia" is pronounced as /sɪˌtruːləˈniːmiə/, with the emphasis on the second syllable of "trull" and the first syllable of "emia". This word refers to an inherited metabolism disorder characterized by excessive levels of the amino acid citrulline in the blood.

CLASSICAL CITRULLINEMIA Meaning and Definition

1. Classical citrullinemia is a rare genetic disorder that belongs to a family of metabolic disorders known as urea cycle disorders (UCDs). This autosomal recessive condition is caused by a deficiency of the enzyme argininosuccinate synthetase (AS), which is responsible for converting citrulline, an amino acid, into argininosuccinate in the urea cycle. The urea cycle is a series of biochemical reactions that primarily occur in the liver, and is responsible for the detoxification of ammonia, a byproduct of protein metabolism.

   Individuals with classical citrullinemia have impaired urea cycle function, leading to the accumulation of ammonia and citrulline in the blood. The excess ammonia is toxic to the brain and can lead to severe neurological symptoms, while the buildup of citrulline can cause additional health problems.

   Common symptoms of classical citrullinemia include poor feeding, lethargy, vomiting, seizures, developmental delays, hyperammonemia, and hepatomegaly. If left untreated, this condition can quickly become life-threatening, causing the affected individual to enter a state of hyperammonemic coma.

   Diagnosis is typically achieved through blood tests that detect elevated ammonia and citrulline levels. Genetic testing can confirm the presence of mutations in the AS gene. Treatment involves a strict low-protein diet, sometimes supplemented with essential amino acids, and medications designed to remove ammonia from the body. In severe cases, liver transplantation may be considered as a curative option. Early diagnosis and prompt treatment are essential for managing classical citrullinemia and preventing life-threatening episodes of hyperammonemia.

Common Misspellings for CLASSICAL CITRULLINEMIA

• xlassical citrullinemia
• vlassical citrullinemia
• flassical citrullinemia
• dlassical citrullinemia
• ckassical citrullinemia
• cpassical citrullinemia
• coassical citrullinemia
• clzssical citrullinemia
• clsssical citrullinemia
• clwssical citrullinemia
• clqssical citrullinemia
• claasical citrullinemia
• clazsical citrullinemia
• claxsical citrullinemia
• cladsical citrullinemia
• claesical citrullinemia
• clawsical citrullinemia
• clasaical citrullinemia
• claszical citrullinemia
• clasxical citrullinemia

Etymology of CLASSICAL CITRULLINEMIA

The term "Classical Citrullinemia" is a medical term that combines two words: "classical" and "citrullinemia".

- "Classical" refers to something ideal, standard, or traditional. In the context of medicine, it is often used to describe a well-known or typical form of a particular disease or condition.

- "Citrullinemia" is derived from the word "citrulline", which is an amino acid. Citrullinemia is a genetic disorder that affects the body's ability to break down and eliminate citrulline properly.

So, the term "Classical Citrullinemia" refers to the typical or well-known form of citrullinemia, which is caused by a genetic mutation leading to impaired citrulline metabolism.