Congenital disorders of glycosylation
Congenital Disorders of Glycosylation (CDG) == 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
- Medical encyclopedia article on Congenital disorders of glycosylation
- Wikipedia's article - Congenital disorders of glycosylation
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Languages: - East Asian
中文,
日本,
한국어,
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Urdu,
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Southeast Asian
Indonesian,
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မြန်မာဘာသာ,
European
español,
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français,
русский,
português do Brasil,
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polski is a group of rare genetic disorders caused by defects in the glycosylation process. The term "congenital" refers to a condition present at birth, while "glycosylation" refers to the process by which sugars are attached to proteins and lipids, a critical function for the proper functioning of cells and organs.
Etymology
The term "Congenital Disorders of Glycosylation" is derived from the Latin word "congenitus" meaning "born together with" and the Greek words "glykys" meaning "sweet", and "sylation" derived from the process of adding a sugar molecule to a protein or lipid.
Types
There are two main types of CDG: Type I and Type II. Type I CDG (CDG-I) involves defects in the assembly of the sugar chain (the oligosaccharide), while Type II CDG (CDG-II) involves defects in the processing of the sugar chain. Each type is further divided into subtypes, each associated with a specific gene mutation.
Symptoms
Symptoms of CDG can vary widely among individuals and between the different types and subtypes. They can range from mild to severe and can involve many parts of the body. Common symptoms include developmental delay, intellectual disability, failure to thrive, and various physical abnormalities.
Diagnosis
Diagnosis of CDG is based on clinical evaluation, detailed patient history, and specialized laboratory testing. Genetic testing can confirm a diagnosis and identify the specific subtype.
Treatment
Treatment of CDG is symptomatic and supportive, and depends on the specific symptoms and severity in each individual.
See also
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