How Do You Spell CITRULLINURIA?

Pronunciation: [sˌɪtɹəlɪnjˈʊɹi͡ə] (IPA)

Citrullinuria is a rare genetic disorder that affects the metabolism of amino acids. The spelling of this word can seem complicated, but it can be broken down using IPA phonetic transcription. It is pronounced as /sɪt.rʌl.ɪn.jʊə.riə/. The first syllable "cit" resembles the word "sit," the second syllable "rul" rhymes with "full," and the third syllable "in" sounds like "win." The final syllable is "uria," which sounds like "you-ree-uh." Breaking down a word using IPA phonetics can make it easier to understand and pronounce correctly.

CITRULLINURIA Meaning and Definition

1. Citrullinuria is a rare inherited metabolic disorder characterized by impaired functioning of the enzyme argininosuccinate synthetase (AS). This enzyme is responsible for the production of argininosuccinate, which is necessary for the body to convert ammonia into urea in the urea cycle. Urea is then eliminated from the body through urine.

   Individuals with citrullinuria have a deficiency of argininosuccinate synthetase, resulting in the accumulation of citrulline, ammonia, and other toxic substances in the blood. This can cause a wide range of symptoms and health complications, including developmental delay, intellectual disability, and liver problems.

   The condition is usually present at birth, and symptoms may become apparent during infancy or early childhood. These symptoms can include poor appetite, vomiting, lethargy, seizures, and an ammonia-like odor to the urine, breath, or sweat.

   Diagnosis of citrullinuria is typically made through blood and urine tests, which can measure the levels of citrulline and ammonia. Genetic testing may also be recommended to confirm the presence of any known mutations in the AS gene.

   Treatment for citrullinuria typically involves strict dietary management, with a focus on protein restriction and supplementation with arginine and citrulline. Medications may also be used to help eliminate excess ammonia from the body. With appropriate management, the prognosis for individuals with citrullinuria can vary, but early diagnosis and treatment are key for optimizing outcomes and minimizing complications.

Common Misspellings for CITRULLINURIA

• citrulliuria

Etymology of CITRULLINURIA

The word "citrullinuria" is derived from two main components: "citrulline" and "uria".

1. Citrulline: The term "citrulline" refers to an amino acid, which was first identified in watermelon (Citrullus vulgaris) by scientists in 1930. The name "citrulline" is derived from the Latin word "citrullus", meaning watermelon. A high concentration of citrulline is found in the rind of watermelon.

2. Uria: The suffix "-uria" is commonly used in medical terminology to denote the presence or excess of a specific substance in urine. It is derived from the Greek word "ouron", meaning urine.

Similar spelling word for CITRULLINURIA

• starliner.