How Do You Spell ACATALASIA?

Pronunciation: [ɐkˌatɐlˈe͡ɪzi͡ə] (IPA)

Acatalasia is a rare genetic disorder that affects the breakdown of hydrogen peroxide in the body. It is spelled [ækətəˈleɪziə] in IPA phonetic transcription. The first syllable is pronounced with a short "a" sound, followed by a syllable with a schwa vowel. The third syllable is stressed and pronounced with a long "a" sound. The final syllable contains the "sia" suffix and is pronounced with a schwa vowel followed by a "zh" sound. Due to its clinical rarity, acatalasia is often misdiagnosed or undiagnosed.

ACATALASIA Meaning and Definition

1. Acatalasia, also known as acatalasemia, is a rare inherited disorder characterized by the absence or severely reduced levels of the enzyme catalase in the body. Catalase is an important enzyme that plays a crucial role in breaking down hydrogen peroxide, a toxic byproduct of metabolic processes in cells. Hydrogen peroxide can cause oxidative damage to tissues and organs if not properly decomposed, leading to various health problems.

   Patients with acatalasia typically experience an accumulation of hydrogen peroxide, which can result in weaker body defenses against oxidative stress. Common symptoms include oral lesions, such as ulcers or gum inflammation, bleeding gums, frequent infections, and impaired wound healing. Additionally, individuals with acatalasia may display abnormally low levels of catalase in their blood, tissues, and saliva.

   Diagnosis of acatalasia is usually based on the clinical presentation, the identification of reduced levels of catalase, and the observation of elevated hydrogen peroxide levels. Genetic testing can also be conducted to confirm the diagnosis and identify the specific mutation responsible for the disorder.

   Treatment for acatalasia involves managing symptoms and minimizing the effects of oxidative stress through various means, such as avoiding hydrogen peroxide-containing products, maintaining good oral hygiene, and taking antioxidant supplements. Regular dental check-ups and close monitoring of oral health are essential for individuals with this condition.

   In summary, acatalasia is a rare genetic disorder characterized by a deficiency or absence of the enzyme catalase, leading to elevated hydrogen peroxide levels and increased susceptibility to oxidative stress-related health issues.

Common Misspellings for ACATALASIA

• scatalasia

Etymology of ACATALASIA

The word "acatalasia" is derived from the combining form "a-", meaning "without", and "catalasia", which refers to a biological process of breaking down hydrogen peroxide in the body. The term "catalasia" is formed from the Greek words "katakatalasis", meaning "dissolution completely", and "katalasis", meaning "dissolution". Therefore, "acatalasia" is a medical term coined to describe a rare hereditary disorder characterized by a deficiency of the enzyme catalase, which leads to the inability to break down hydrogen peroxide in the body.

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