LP200429-1
Gamma butyrobetaine
Active
Description
Gamma-butyrobetaine dioxygenase catalyzes the formation of L-carnitine from gamma-butyrobetaine (G-butyrobetaine). G-butyrobetaine levels are altered in various carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase epsilon (TMLHE) deficiency. Decreased levels of gamma-butyrobetaine and 3-hydroxy-6-N-trimethyllysine along with increased levels of 6-N-trimethyllysine in plasma and urine were found in a patient with a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene. PMID: 22566635 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Gamma butyrobetaine
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-09-22
- Construct for LOINC Short Name
- G-butyrobetaine
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | Gamma 丁酰甜菜碱 Synonyms: Gamma-丁酰甜菜碱; |
| es-ES | Spanish (Spain) | Gamma butirobetaina |
| it-IT | Italian (Italy) | Gsmma butirro-betaina |
| tr-TR | Turkish (Turkey) | Gamma butirobetain |
| nl-NL | Dutch (Netherlands) | gamma butyrobetaïne |
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