Version 2.78

38481-8 Carnitine free (C0) [Moles/volume] in DBS

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
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Carnitine Free DBS-sCnc
Display Name
C0 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
C0, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.14
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
19326

Member of these Panels

LOINC Long Common Name
58092-8 Acylcarnitine newborn screen panel
79284-6 Carnitine biosynthesis intermediates panel - DBS
53262-2 Carnitine newborn screen panel
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Carnitina libre:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Carnitina libre (C0):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-AR Spanish (Argentina) carnitina.libre:concentración de sustancia:punto en el tiempo:sangre.gota:cuantitativo:
et-EE Estonian (Estonia) Karnitiin.vaba (C0):SCnc:Pt:Vereplekk:Qn:
Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-BE French (Belgium) Carnitine.libre (C0):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Carnitine libre (C0):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-CA French (Canada) Carnitine.libre (C0):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Carnitina.libera (C0):SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Carnitina libera (C0) Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR Korean (Korea, Republic Of) 유리카르니틴:물질농도:검사시점:필터지혈액:정량:
nl-NL Dutch (Netherlands) carnitine.vrij (C0):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Carnitina.livre (C0):SCnc:Pt:SgPapel:Qn:
Synonyms: Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; Chemistry
ru-RU Russian (Russian Federation) Карнитин.свободный(С0):МолКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR Turkish (Turkey) Karnitin.serb (C0):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 肉碱.游离型 (C0):物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 游离 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计 血;血液 非蛋白结合型 非蛋白质结合型

Example Units

Unit Source
umol/L Example UCUM Units
mcmol/L REGENSTRIEF

79330-7 Trimethyllysine [Moles/volume] in DBS

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
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
TML DBS-sCnc
Display Name
Trimethyllysine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
Trimethyllysine, 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) Trimetil lisina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Trimetilisina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Triméthyllysine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Trimetil-lisina:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) trimethyllysine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
tr-TR Turkish (Turkey) Trimetillizin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 三甲基赖氨酸:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L Example UCUM Units

79310-9 Gamma butyrobetaine [Moles/volume] in DBS

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
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
G-butyrobetaine DBS-sCnc
Display Name
Gamma butyrobetaine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
Gamma butyrobetaine, 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) Gamma butirobetaina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Gamma butirobetaína:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Gamma butyrobétaïne:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Gsmma butirro-betaina:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) gamma butyrobetaïne:mol/volume:moment:gedroogde bloedspot:kwantitatief:
tr-TR Turkish (Turkey) Gamma butirobetain:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Gamma 丁酰甜菜碱:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: Gamma-丁酰甜菜碱;γ-丁酰甜菜碱;Gamma-丁酰基甜菜碱;γ-丁酰基甜菜碱;γ-丁基甜菜碱;γ-三甲铵基丁内盐;γ-丁内铵盐;γ-三甲氨基丁内盐 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L Example UCUM Units

79314-1 Gamma butyrobetaine/Trimethyllysine [Molar ratio] in DBS

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

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
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) Gamma butirobetaina/Trimetil lisina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Gamma butirobetaína / trimetilisina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Gamma butyrobétaïne/triméthyllysine:Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Gsmma butirro-betaina/Trimetil-lisina:Srto:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL Dutch (Netherlands) gamma butyrobetaïne/trimethyllysine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
tr-TR Turkish (Turkey) Gamma butirobetain/Trimetillizin:SOrn:Zmlı:Kan.nokta:Kant:
Synonyms: SubsOranı
zh-CN Chinese (China) Gamma 丁酰甜菜碱/三甲基赖氨酸:物质的量比率:时间点:全血.斑点:定量型:
Synonyms: Gamma-丁酰甜菜碱;γ-丁酰甜菜碱;Gamma-丁酰基甜菜碱;γ-丁酰基甜菜碱;γ-丁基甜菜碱;γ-三甲铵基丁内盐;γ-丁内铵盐;γ-三甲氨基丁内盐 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值 血;血液

Example Units

Unit Source
{ratio} Example UCUM Units

79270-5 3-Hydroxytrimethyl-L-lysine [Moles/volume] in DBS

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
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-MX Spanish (Mexico) 3-hidroxitrimetil-L-lisina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) 3-Hidroxi-trimetil-lisina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
fr-FR French (France) 3-hydroxytriméthyl-L-lysine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) 3-Idrossitrimetil-L-lisina:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) 3-hydroxytrimethyl-L-lysine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
tr-TR Turkish (Turkey) 3-Hidroksitrimetil-L-lizin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 3-羟基三甲基-L-赖氨酸:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: 2,6-二氨基已酸;Lys;氨基已氨酸;溶细胞素 Ⅲ III 三 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叁 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 左 左侧 左侧（Left，L） 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L Example UCUM Units

79273-9 3-Hydroxytrimethyl-L-lysine/Trimethyllysine [Molar ratio] in DBS

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
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
3OH-trimethyl-L-lysine/TML DBS-sRto
Display Name
3-Hydroxytrimethyl-L-lysine/Trimethyllysine (DBS) [Molar ratio]
Consumer Name Alpha Get Info
3-Hydroxytrimethyl-L-lysine/Trimethyllysine, 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/Trimetil lisina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) 3-hidroxitrimetil-L-lisina / trimetilisina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) 3-hydroxytriméthyl-L-lysine/triméthyllysine:Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) 3-Idrossitrimetil-L-lisina/Trimetil-lisina:Srto:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL Dutch (Netherlands) 3-hydroxytrimethyl-L-lysine/trimethyllysine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
tr-TR Turkish (Turkey) 3-Hidroksitrimetil-L-lizin/Trimetillizin:SOrn:Zmlı:Kan.nokta:Kant:
Synonyms: SubsOranı
zh-CN Chinese (China) 3-羟基三甲基-L-赖氨酸/三甲基赖氨酸:物质的量比率:时间点:全血.斑点:定量型:
Synonyms: 2,6-二氨基已酸;Lys;氨基已氨酸;溶细胞素 Ⅲ III 三 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叁 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 左 左侧 左侧（Left，L） 时刻;随机;随意;瞬间 物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值 血;血液

Example Units

Unit Source
{ratio} Example UCUM Units

79339-8 Carnitine biosynthesis intermediates pattern newborn screen interpretation

Term Description

The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Carnitine biosynthesis intermediates pattern
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Short Name
Carnitine biosynthesis pattern DBS-Imp
Display Name
Carnitine biosynthesis intermediates pattern Nar (DBS) [Interp]
Consumer Name Alpha Get Info
Interpretation of Carnitine biosynthesis intermediates pattern test result, Dried blood spot

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
79284-6 Carnitine biosynthesis intermediates panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Patrón de acilcarnitinas:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Patrón de intermedios de biosíntesis de carnitina:Impresión / interpretación del estudio:Punto temporal:DBS:Narrativo:
fr-FR French (France) Carnitine intermédiaires de synthèse Profil:Interprétation:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Intermediari nella biosintesi della carnitina, profilo:Imp:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Impressione/interpretazione di studio Profilo di intermediari nella biosintesi della car Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) carnitine biosynthese intermediairen patroon:interpretatie:moment:gedroogde bloedspot:tekstueel:
tr-TR Turkish (Turkey) Karnitin byiosentezi arameabolitleri örüntüsü:İzlnm:Zmlı:Kan.nokta:Öykü:
Synonyms: Karnitin byiosentezi arameabolitleri paterni
zh-CN Chinese (China) 肉碱生物合成中间产物模式:印象:时间点:全血.斑点:叙述型:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 时刻;随机;随意;瞬间 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）生物合成中间产物模式;肉碱生物合成（生物合成过程、生物合成作用）中间产物（中间产物类、中间物、中间体）模式（模式特征、特征模式、图谱、式样、组份、组分、成员） 血;血液