How Do You Spell CRIGLER NAJJAR SYNDROME?

Pronunciation: [kɹˈɪɡlə nˈad͡ʒɑː sˈɪndɹə͡ʊm] (IPA)

The Crigler Najjar Syndrome is a rare genetic disorder that affects the metabolism of bilirubin, a substance that is formed when hemoglobin breaks down. The word "Crigler" is pronounced as [ˈkrɪɡlər], with a hard "g" sound and short "i" sound in the first syllable. "Najjar" is pronounced as [nædʒɑːr], with a silent "j" and a long "a" sound. Spelling this disorder correctly is important for those conducting medical research or treating patients who are affected by this condition.

CRIGLER NAJJAR SYNDROME Meaning and Definition

1. Crigler-Najjar syndrome is a rare and inherited disorder characterized by a deficiency or absence of the enzyme called Uridine Diphosphate Glucuronosyl Transferase (UGT). This enzyme is responsible for breaking down bilirubin, a yellow pigment produced during the normal breakdown of red blood cells. In individuals with Crigler-Najjar syndrome, the absence of functional UGT enzyme results in the accumulation of unconjugated or indirect bilirubin in the bloodstream, leading to a condition known as hyperbilirubinemia.

   There are two types of Crigler-Najjar syndrome: type 1 and type 2. Type 1 is the more severe form and presents shortly after birth. It is characterized by extremely high levels of unconjugated bilirubin, which can lead to jaundice (yellowing of the skin and eyes). Without proper treatment, the buildup of bilirubin can cause severe brain damage and even be fatal. Type 2 is a milder form and usually manifests later in childhood or adulthood. While the bilirubin levels are still high, they are generally less severe, and complications are less common.

   Treatment for Crigler-Najjar syndrome typically involves phototherapy, which utilizes special lights to help break down excess bilirubin in the bloodstream. In more severe cases, liver transplantation may be necessary to provide a functioning source of the UGT enzyme. Gene therapy is also being explored as a potential treatment option.

   Crigler-Najjar syndrome is a rare condition, with type 1 affecting about 1 in every 100,000 to 1,000,000 individuals. Genetic counseling is recommended for families with a history of the disorder to understand the risk of passing it

Common Misspellings for CRIGLER NAJJAR SYNDROME

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Similar spelling word for CRIGLER NAJJAR SYNDROME

• Crigler Najar Syndrome.