How Do You Spell ZELLWEGER DISEASE?

Pronunciation: [zˈɛlwɛd͡ʒə dɪzˈiːz] (IPA)

Zellweger Disease, also known as Zellweger Syndrome, is a rare genetic disorder that affects various organs in the body. The correct pronunciation of this word is /ˈzɛlwɛɡər/ (ZEL-weg-ər), which follows the IPA phonetic transcription. The spelling of this word is based on the last name of the Swiss pediatrician, Hans Zellweger, who first described this condition in 1964. It is caused by a deficiency in certain enzymes that help break down substances in the body, leading to the accumulation of toxic materials and severe health problems.

ZELLWEGER DISEASE Meaning and Definition

1. Zellweger disease, also known as Zellweger syndrome, is a rare genetic disorder characterized by a group of metabolic diseases collectively known as peroxisome biogenesis disorders (PBDs). It is an autosomal recessive disorder, meaning that an individual must inherit two abnormal copies of a specific gene to develop the condition.

   Zellweger disease affects the peroxisomes, which are membrane-bound organelles essential for various metabolic processes. Individuals with this disorder have impaired or absent peroxisomes, leading to the accumulation of toxic compounds in their cells.

   The symptoms of Zellweger disease are typically present at birth or become apparent in early infancy and can vary in severity among affected individuals. Common features include facial dysmorphism such as a high forehead, wide-set eyes, and a prominent ridge over the nasal bridge. Other manifestations may include enlarged liver, kidney cysts, hearing loss, feeding difficulties, seizures, and developmental delays.

   Sadly, Zellweger disease is a life-limiting condition with no cure. Treatment is generally supportive and aims to manage symptoms and complications. Early intervention with therapies such as physical and occupational therapy, special education programs, and nutritional support may improve the quality of life for affected individuals.

   Zellweger disease, as part of the peroxisome biogenesis disorders, is a complex condition requiring specialized medical care and ongoing monitoring. Genetic counseling is crucial for families to understand the chances of having another affected child. Ongoing research seeks to better understand the disease and develop potential treatments and interventions.

Common Misspellings for ZELLWEGER DISEASE

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Etymology of ZELLWEGER DISEASE

The word "Zellweger Disease" is named after the Swiss pediatrician who first described the condition, Dr. Hans Zellweger. He identified and characterized the disease in the late 1960s along with his colleagues, Dr. Fernando Notter and Dr. John M. Spranger. As a tribute to Dr. Zellweger's significant contributions to the understanding of the condition, it was named after him.