79314-1

Gamma butyrobetaine/Trimethyllysine [Molar ratio] in DBS

Active

Part Descriptions

LP200429-1   Gamma butyrobetaine
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

LP200451-5   Trimethyllysine
Trimethyllysine (N6,N6,N6-Trimethyl-L-lysine) is a methylated derivative of the amino acid lysine. It is a component of histone proteins, a precursor of carnitine and a coenzyme of fatty acid oxidation. N6,N6,N6-Trimethyl-L-lysine residues are found in a number of proteins and are generated by the action of S-adenosyl-L-methionine on exposed lysine residues. When trimethyllysine is released from cognate proteins via proteolysis, it serves as a precursor for carnitine biosynthesis. Mitochondrial 6-N-trimethyllysine dioxygenase converts 6-N-trimethyllysine to 3-hydroxy-6-N-trimethyllysine as the first step for carnitine biosynthesis. Because the subsequent carnitine biosynthesis enzymes are cytosolic, 3-hydroxy-6-N-trimethyllysine must be transported out of the mitochondria by a putative mitochondrial 6-N-trimethyllysine/3-hydroxy-6-N-trimethyllysine transporter system. Plasma -N-trimethyllysine concentrations are significantly lower in systemic carnitine deficiency patients compared to normal individuals, but no significant difference in urinary -N-trimethyllysine excretion is seen between the two groups.[HMDB ID: HMDB01325] Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database

Fully-Specified Name

Component

Gamma butyrobetaine/Trimethyllysine

Property

SRto

Time

Pt

System

Bld.dot

Scale

Qn

Method

Additional Names

Long Common Name

Gamma butyrobetaine/Trimethyllysine [Molar ratio] in DBS

Short Name

G-butyrobetaine/TML DBS-sRto

Display Name

Gamma butyrobetaine/Trimethyllysine (DBS) [Molar ratio]

Consumer Name Alpha Get Info

Gamma butyrobetaine/Trimethyllysine, Dried blood spot

Basic Attributes

Class

CHEM

Type

Laboratory

First Released

Version 2.54

Last Updated

Version 2.61 (MIN)

Order vs. Observation

Both

Member of these Panels

Language Variants Get Info

Related Names

• 6-N-L-trimethyl-L-lysine
• Blood
• Carnitine deficiency disorder
• Chemistry
• DBS
• Dried blood spot
• Epsilon-Trimethyllysine
• Filter paper
• FP
• G-butyrobetaine
• N(6),N(6),N(6)-trimethyl-L-lysine
• Point in time
• QNT
• Quan
• Quant
• Quantitative
• Random
• Scrto
• Substance concentration ratio
• Substance ratio
• TML
• TMLHE
• Trimethyllysine hydroxylase epsilon deficiency
• WB
• Whole blood

Example Units

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CodeSystem lookup

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LOINC Copyright

Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.