79286-1
Carnitine biosynthesis intermediates panel - Cerebral spinal fluid
Active
53072-5 Carnitine free (C0) [Moles/volume] in Cerebral spinal fluid
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Carnitine.free (C0)
- Property
- SCnc
- Time
- Pt
- System
- CSF
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free CSF-sCnc
- Display Name
- C0 (CSF) [Moles/Vol]
- Consumer Name Alpha Get Info
- C0, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79286-1 | Carnitine biosynthesis intermediates panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | Carnitin.frei: Synonyms: Zerebrospinalflüssigkeit |
es-ES | Spanish (Spain) | Carnitina libre: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Carnitina libre (C0): |
et-EE | Estonian (Estonia) | Karnitiin.vaba (C0): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Liikvor |
fr-BE | French (Belgium) | Carnitine.libre (C0): |
fr-FR | French (France) | Carnitine libre (C0): |
fr-CA | French (Canada) | Carnitine.libre (C0): |
it-IT | Italian (Italy) | Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Concentrazione di Sostanza Liquido cerebrospinale Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | carnitine.vrij (C0): |
pt-BR | Portuguese (Brazil) | Carnitina.livre (C0): Synonyms: Substance concentration; |
ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0): Synonyms: Количественный Молярность; |
tr-TR | Turkish (Turkey) | Karnitin.serb (C0): |
zh-CN | Chinese (China) | 肉碱.游离型 (C0): Synonyms: CSF CSF; |
Example Units
Unit | Source |
---|---|
umol/L | Example UCUM Units |
79329-9 Trimethyllysine [Moles/volume] in Cerebral spinal fluid
Part Descriptions
LP200267-5 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
- Trimethyllysine
- Property
- SCnc
- Time
- Pt
- System
- CSF
- Scale
- Qn
- Method
Additional Names
- Short Name
- TML CSF-sCnc
- Display Name
- Trimethyllysine (CSF) [Moles/Vol]
- Consumer Name Alpha Get Info
- Trimethyllysine, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79286-1 | Carnitine biosynthesis intermediates panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Trimetil lisina: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Trimetilisina: |
fr-FR | French (France) | Triméthyllysine: |
it-IT | Italian (Italy) | Trimetil-lisina: Synonyms: Chimica Concentrazione di Sostanza Liquido cerebrospinale Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | trimethyllysine: |
tr-TR | Turkish (Turkey) | Trimetillizin: |
zh-CN | Chinese (China) | 三甲基赖氨酸: Synonyms: CSF CSF; |
Example Units
Unit | Source |
---|---|
umol/L | Example UCUM Units |
79309-1 Gamma butyrobetaine [Moles/volume] in Cerebral spinal fluid
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
Fully-Specified Name
- Component
- Gamma butyrobetaine
- Property
- SCnc
- Time
- Pt
- System
- CSF
- Scale
- Qn
- Method
Additional Names
- Short Name
- G-butyrobetaine CSF-sCnc
- Display Name
- Gamma butyrobetaine (CSF) [Moles/Vol]
- Consumer Name Alpha Get Info
- Gamma butyrobetaine, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79286-1 | Carnitine biosynthesis intermediates panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gamma butirobetaina: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Gamma butirobetaína: |
fr-FR | French (France) | Gamma butyrobétaïne: |
it-IT | Italian (Italy) | Gsmma butirro-betaina: Synonyms: Chimica Concentrazione di Sostanza Liquido cerebrospinale Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | gamma butyrobetaïne: |
tr-TR | Turkish (Turkey) | Gamma butirobetain: |
zh-CN | Chinese (China) | Gamma 丁酰甜菜碱: Synonyms: CSF CSF; |
Example Units
Unit | Source |
---|---|
umol/L | Example UCUM Units |
79315-8 Gamma butyrobetaine/Trimethyllysine [Molar ratio] in Cerebral spinal fluid
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
- CSF
- Scale
- Qn
- Method
Additional Names
- Short Name
- G-butyrobetaine/TML CSF-sRto
- Display Name
- Gamma butyrobetaine/Trimethyllysine (CSF) [Molar ratio]
- Consumer Name Alpha Get Info
- Gamma butyrobetaine/Trimethyllysine, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79286-1 | Carnitine biosynthesis intermediates panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gamma butirobetaina/Trimetil lisina: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Gamma butirobetaína / trimetilisina: |
fr-FR | French (France) | Gamma butyrobétaïne/triméthyllysine: |
it-IT | Italian (Italy) | Gsmma butirro-betaina/Trimetil-lisina: Synonyms: Chimica Liquido cerebrospinale Punto nel tempo (episodio) Rapporto di sostanza |
nl-NL | Dutch (Netherlands) | gamma butyrobetaïne/trimethyllysine: |
tr-TR | Turkish (Turkey) | Gamma butirobetain/Trimetillizin: Synonyms: SubsOranı |
zh-CN | Chinese (China) | Gamma 丁酰甜菜碱/三甲基赖氨酸: Synonyms: CSF CSF; |
Example Units
Unit | Source |
---|---|
{ratio} | Example UCUM Units |
79269-7 3-Hydroxytrimethyl-L-lysine [Moles/volume] in Cerebral spinal fluid
Part Descriptions
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
- CSF
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-trimethyl-L-lysine CSF-sCnc
- Display Name
- 3-Hydroxytrimethyl-L-lysine (CSF) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxytrimethyl-L-lysine, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79286-1 | Carnitine biosynthesis intermediates panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | 3-hidroxitrimetil-L-lisina: |
es-ES | Spanish (Spain) | 3-Hidroxi-trimetil-lisina: Synonyms: Cuantitativo |
fr-FR | French (France) | 3-hydroxytriméthyl-L-lysine: |
it-IT | Italian (Italy) | 3-Idrossitrimetil-L-lisina: Synonyms: Chimica Concentrazione di Sostanza Liquido cerebrospinale Punto nel tempo (episodio) |
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 |
79272-1 3-Hydroxytrimethyl-L-lysine/Trimethyllysine [Molar ratio] in Cerebral spinal fluid
Part Descriptions
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
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
- 3-Hydroxytrimethyl-L-lysine/Trimethyllysine
- Property
- SRto
- Time
- Pt
- System
- CSF
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-trimethyl-L-lysine/TML CSF-sRto
- Display Name
- 3-Hydroxytrimethyl-L-lysine/Trimethyllysine (CSF) [Molar ratio]
- Consumer Name Alpha Get Info
- 3-Hydroxytrimethyl-L-lysine/Trimethyllysine, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79286-1 | Carnitine biosynthesis intermediates panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | 3-Hidroxi-trimetil-lisina/Trimetil lisina: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | 3-hidroxitrimetil-L-lisina / trimetilisina: |
fr-FR | French (France) | 3-hydroxytriméthyl-L-lysine/triméthyllysine: |
it-IT | Italian (Italy) | 3-Idrossitrimetil-L-lisina/Trimetil-lisina: Synonyms: Chimica Liquido cerebrospinale Punto nel tempo (episodio) Rapporto di sostanza |
nl-NL | Dutch (Netherlands) | 3-hydroxytrimethyl-L-lysine/trimethyllysine: |
tr-TR | Turkish (Turkey) | 3-Hidroksitrimetil-L-lizin/Trimetillizin: Synonyms: SubsOranı |
zh-CN | Chinese (China) | 3-羟基三甲基-L-赖氨酸/三甲基赖氨酸: Synonyms: 2,6-二氨基已酸; |
Example Units
Unit | Source |
---|---|
{ratio} | Example UCUM Units |
79340-6 Carnitine biosynthesis intermediates pattern [Interpretation] in Cerebral spinal fluid Narrative
Term Description
Narrative interpretation of carnitine biosynthesis findings in CSF. The suspected type of carnitine biosynthesis disorder (e.g. X-linked trimethyllysine hydroxylase deficiency) is reported based on the results.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Carnitine biosynthesis intermediates pattern
- Property
- Imp
- Time
- Pt
- System
- CSF
- Scale
- Nar
- Method
Additional Names
- Short Name
- Carnitine biosynthesis pattern CSF-Imp
- Display Name
- Carnitine biosynthesis intermediates pattern Nar (CSF) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Carnitine biosynthesis intermediates pattern test result, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
79286-1 | Carnitine biosynthesis intermediates panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Patrón de acilcarnitinas: |
es-MX | Spanish (Mexico) | Patrón de intermedios de biosíntesis de carnitina: |
fr-FR | French (France) | Carnitine intermédiaires de synthèse Profil: |
it-IT | Italian (Italy) | Intermediari nella biosintesi della carnitina, profilo: Synonyms: Chimica Impressione/interpretazione di studio Liquido cerebrospinale Profilo di intermediari nella biosintesi della car Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | carnitine biosynthese intermediairen patroon: |
tr-TR | Turkish (Turkey) | Karnitin byiosentezi arameabolitleri örüntüsü: Synonyms: Karnitin byiosentezi arameabolitleri paterni |
zh-CN | Chinese (China) | 肉碱生物合成中间产物模式: Synonyms: CSF CSF; |