79270-5
3-Hydroxytrimethyl-L-lysine [Moles/volume] in DBS
Active
Part Description
LP200265-9 3-Hydroxytrimethyl-L-lysine
3-Hydroxytrimethyl-L-lysine is found within the Lysine degradation (aka L-carnitine biosynthesis) pathway; it is a byproduct of trimethyllysine dioxygenase (trimethyllysine hydroxylase, EC 1.14.11.8), which converts trimethyllysine + 2-oxoglutarate to 3-Hydroxytrimethyl-L-lysine + succinate. Patients with X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a carnitine deficiency disorder associated with autism, have lower than expected levels of carnitine as well as 3-Hydroxytrimethyl-L-lysine, and elevated levels of trimethyllysine. [OMIM: 300777]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- 3-Hydroxytrimethyl-L-lysine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-trimethyl-L-lysine DBS-sCnc
- Display Name
- 3-Hydroxytrimethyl-L-lysine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxytrimethyl-L-lysine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79284-6 | Carnitine biosynthesis intermediates panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | 3-Hidroxi-trimetil-lisina: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | 3-hidroxitrimetil-L-lisina: |
fr-FR | French (France) | 3-hydroxytriméthyl-L-lysine: |
it-IT | Italian (Italy) | 3-Idrossitrimetil-L-lisina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | 3-hydroxytrimethyl-L-lysine: |
tr-TR | Turkish (Turkey) | 3-Hidroksitrimetil-L-lizin: |
zh-CN | Chinese (China) | 3-羟基三甲基-L-赖氨酸: Synonyms: 2,6-二氨基已酸; |
Example Units
Unit | Source |
---|---|
umol/L | Example UCUM Units |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=79270-5
LOINC Copyright
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