Abetalipoproteinemia

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Abetalipoproteinemia (== Template:IPA ==

The Template:IPA (International Phonetic Alphabet) is a system of phonetic notation based primarily on the Latin alphabet. It was devised by the International Phonetic Association in the late 19th century as a standardized representation of the sounds of spoken language.

Pronunciation

The pronunciation of the term "IPA" is /aɪ piː eɪ/ in English.

Etymology

The term "IPA" is an acronym for the International Phonetic Alphabet. The International Phonetic Association, founded in 1886, created the IPA to provide a single, universal system for the transcription of spoken language.

Related Terms

  • Phonetic notation: A system used to visually represent the sounds of speech. The IPA is one type of phonetic notation.
  • Phonetics: The study of the physical sounds of human speech. It is concerned with the physical properties of speech sounds (phonemes), and the processes of their physiological production, auditory reception, and neurophysiological perception.
  • Phonology: The study of the way sounds function within a particular language or languages. While phonetics concerns the physical production, acoustic transmission and perception of the sounds of speech, phonology describes the way sounds function within a particular language or languages.
  • Transcription (linguistics): The systematic representation of spoken language in written form. The source of the words transcribe and transcription, the term means "to write across" in Latin, and it's the process of converting spoken language into written form. In linguistics, this is often done using the IPA.

External links

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Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski) is a rare inherited disorder that affects the absorption of dietary fats, cholesterol, and certain vitamins. People affected by this disorder are unable to make certain lipoproteins, which are particles that carry fats and vitamins in the blood.

Etymology

The term "Abetalipoproteinemia" is derived from the Greek words "a-" (without), "beta" (second letter of the Greek alphabet), "lipos" (fat), and "proteios" (of the first quality), thus meaning "without beta quality fat proteins".

Symptoms

Symptoms of Abetalipoproteinemia include failure to thrive, diarrhea, abnormal red blood cells (Acanthocytosis), and fatty, foul-smelling stools (Steatorrhea). Neurological complications such as poor muscle coordination and difficulty with balance and movement (Ataxia) may occur later in life.

Causes

Abetalipoproteinemia is caused by mutations in the Microsomal Triglyceride Transfer Protein (MTP) gene. This gene provides instructions for making a protein that is essential for creating beta-lipoproteins.

Diagnosis

Diagnosis of Abetalipoproteinemia is based on the presence of symptoms, a physical examination, and specialized blood tests. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Abetalipoproteinemia involves large doses of vitamin supplements that can be absorbed without being packaged into lipoproteins. A low-fat diet is also recommended.

See also

References

External links

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