How Do You Spell TYPE I HYPERTYROSINEMIA?

Pronunciation: [tˈa͡ɪp a͡ɪ hˌa͡ɪpətˌɪɹəsa͡ɪnˈiːmi͡ə] (IPA)

Type I Hypertyrosinemia is a metabolic disorder that affects the body's ability to break down the amino acid tyrosine. Its spelling can be explained using the International Phonetic Alphabet (IPA): /taɪp ˌwʌn ˌhaɪpərtɪˌroʊsɪˈniːmiə/. The "y" in "hypertyrosinemia" is pronounced as a short "i" sound, while the "e" at the end is pronounced as "ee." The "o" in "tyrosine" is pronounced using the IPA symbol /oʊ/, which represents the diphthong "oh." Understanding the phonetic spelling of medical terms can help healthcare professionals accurately communicate and document patient conditions.

TYPE I HYPERTYROSINEMIA Meaning and Definition

1. Type I Hypertyrosinemia is a rare metabolic disorder characterized by the deficiency of an enzyme called fumarylacetoacetate hydrolase (FAH). This enzyme is involved in the breakdown of tyrosine, an essential amino acid found in various proteins in the body. In individuals with Type I Hypertyrosinemia, the lack or dysfunction of FAH leads to the accumulation of toxic byproducts, namely fumarylacetoacetate and maleylacetone.

   The excessive levels of these toxic compounds can cause widespread damage to organs and tissues, particularly the liver and kidneys, which are responsible for the metabolism and elimination of these substances. Symptoms typically emerge during infancy or early childhood and may vary in severity. These can include liver dysfunction, such as hepatomegaly (enlarged liver), jaundice, cirrhosis (scarring of the liver), and liver failure. Other signs and symptoms may involve intellectual disability, developmental delay, failure to thrive, and a cabbage-like odor to the urine and sweat.

   Treatment for Type I Hypertyrosinemia revolves around reducing the levels of tyrosine and its toxic byproducts in the body. This is achieved through dietary management, which restricts the intake of tyrosine-rich foods, such as certain meats, dairy products, and certain fruits and vegetables. Additionally, medication such as nitisinone may be prescribed to inhibit an upstream enzyme in the biochemical pathway of tyrosine, reducing the production of the toxic compounds. Management also involves close monitoring of liver and kidney function and regular check-ups with a metabolic specialist. Without proper management, Type I Hypertyrosinemia can lead to life-threatening complications, affecting multiple organ systems.

Common Misspellings for TYPE I HYPERTYROSINEMIA

• rype i hypertyrosinemia
• fype i hypertyrosinemia
• gype i hypertyrosinemia
• yype i hypertyrosinemia
• 6ype i hypertyrosinemia
• 5ype i hypertyrosinemia
• ttpe i hypertyrosinemia
• tgpe i hypertyrosinemia
• thpe i hypertyrosinemia
• tupe i hypertyrosinemia
• t7pe i hypertyrosinemia
• t6pe i hypertyrosinemia
• tyoe i hypertyrosinemia
• tyle i hypertyrosinemia
• ty-e i hypertyrosinemia
• ty0e i hypertyrosinemia
• typw i hypertyrosinemia
• typs i hypertyrosinemia
• typd i hypertyrosinemia
• typr i hypertyrosinemia