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104192-0 Guanidinoacetate methyltransferase deficiency newborn screen interpretation

Fully-Specified Name

Component
Guanidinoacetate methyltransferase deficiency
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77 (ADD)
Order vs. Observation
Both

Example Answer List LL6931-1

AnswerCodeScoreAnswer ID
BorderlineLA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)LA11884-6
One or more tests pendingLA16204-2
Screen NegativeLA34518-3
Screen PositiveLA34519-1
Specimen unacceptable for at least one conditionLA34520-9
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value)LA9663-1
Not testedLA13538-6

Member of these Panels

LOINCLong Common Name
104191-2Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Guanidinacetát methyltransferáza deficit:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης Γουανιδινοξικό
es-ESSpanish (Spain)Deficiencia de guanidinoacetato metiltransferasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FRFrench (France)Guanidinoacétate méthyltransférase (GAMT) carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)Deficit di guanidinoacetato-metiltransferasi:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Deficit di GAMT Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)deficiëntie van guanidinoacetaatmethyltransferase:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: guanidinoacetaatmethyltransferasedeficiëntie
pl-PLPolish (Poland)Niedobór guanidynoacetylo-metylotransferazy:ocena:punkt w czasie:sucha kropla krwi:skala nominalna:
Synonyms: Niedobór GAMT wynik kategorialny
zh-CNChinese (China)胍基乙酸甲基转移酶缺陷:印象:时间点:全血.斑点:名义型:
Synonyms: GAA;胍乙酸;胍基醋酸 GAMT;胍乙酸甲基转移酶缺陷 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 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 时刻;随机;随意;瞬间 血;血液 转甲基酶

104194-6 Creatine [Moles/volume] in DBS

Part Descriptions

LP15509-0   Creatine
Creatine is a nitrogenous organic acid that naturally occurs in vertebrates and helps to supply energy to muscle cells. In solution, creatine is in equilibrium with creatinine.

Creatine is naturally produced in the human body from amino acids primarily in the kidney and liver. It is transported in the blood for use by muscles. Approximately 95% of the human body's total creatine is located in skeletal muscle. Genetic deficiencies in the creatine biosynthetic pathway lead to various severe neurological defects. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Creatine (Wikipedia)

Fully-Specified Name

Component
Creatine
Property
SCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77 (ADD)
Order vs. Observation
Both

Member of these Panels

LOINCLong Common Name
104191-2Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Kreatin:Látková koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GRGreek (Greece)Κρεατίνη:SCnc:Pt:Bld.dot:Qn:
Synonyms: Bld.dot CHEM Pt Qn SCnc Αίμα Κρεατίνη
es-ESSpanish (Spain)Creatina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EEEstonian (Estonia)Kreatiin:SCnc:Pt:Vereplekk:Qn:
Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FRFrench (France)Créatine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-CAFrench (Canada)Créatine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-BEFrench (Belgium)Créatine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-ITItalian (Italy)Creatina:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)creatine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PLPolish (Poland)Kreatyna:stężenie molowe:punkt w czasie:sucha kropla krwi:ilościowy:
ru-RURussian (Russian Federation)Креатинин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TRTurkish (Turkey)Kreatin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CNChinese (China)肌酸:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: Cr;甲胍;甲胍基乙酸;甲胍基醋酸;肌氨酸 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

UnitSource
mmol/LExample UCUM Units

104193-8 Guanidinoacetate methyltransferase deficiency comment [Text] in DBS Narrative

Fully-Specified Name

Component
Guanidinoacetate methyltransferase deficiency comment
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77 (ADD)
Order vs. Observation
Both

Member of these Panels

LOINCLong Common Name
104191-2Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Guanidinacetát methyltransferáza deficit komentář:Text:Časový bod:Suchá krevní kapka (DBS):Narativní:
el-GRGreek (Greece)Σχόλιο για την ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης:Txt:Pt:Bld.dot:Nar:
Synonyms: Bld.dot CHEM Nar Pt Txt Αίμα Ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης Γουανιδινοξικό Σχόλιο Σχόλιο για την ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης
es-ESSpanish (Spain)Comentario a la deficiencia de guanidinoacetato metiltransferasa:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
fr-FRFrench (France)Guanidinoacétate méthyltransférase (GAMT) carence (commentaire):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-ITItalian (Italy)Deficit di guanidinoacetato-metiltransferasi, commento:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento di Deficit di guanidinoacetato-metiltransferasi Deficit di GAMT Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NLDutch (Netherlands)opmerking over deficiëntie van guanidinoacetaatmethyltransferase:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: guanidinoacetaatmethyltransferasedeficiëntie
pl-PLPolish (Poland)Komentarz dotyczący niedoboru guanidynoacetylo-metylotransferazy:tekst:punkt w czasie:sucha kropla krwi:opisowy:
Synonyms: Komentarz dotyczący niedoboru GAMT Niedobór GAMT
zh-CNChinese (China)胍基乙酸甲基转移酶缺陷注释:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: GAA;胍乙酸;胍基醋酸 GAMT;胍乙酸甲基转移酶缺陷 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 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 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 时刻;随机;随意;瞬间 注解 短评 胍基乙酸甲基转移酶缺陷（GAMT、胍乙酸甲基转移酶缺陷）注释（备注、注解、评论说明、意见） 血;血液 解说 解释 评定 评注 评论 评语 说明 转甲基酶

93488-5 Guanidinoacetate [Moles/volume] in DBS

Part Descriptions

LP30825-1   Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378 Source: Regenstrief LOINC

Fully-Specified Name

Component
Guanidinoacetate
Property
SCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67 (ADD)
Order vs. Observation
Both

Member of these Panels

LOINCLong Common Name
53261-4Amino acid newborn screen panel
104191-2Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Guanidinacetát:Látková koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GRGreek (Greece)Γουανιδινοξικό:SCnc:Pt:Bld.dot:Qn:
Synonyms: Bld.dot CHEM Pt Qn SCnc Αίμα Γουανιδινοξικό
es-ESSpanish (Spain)Guanidinoacetato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Guanidinoacetato:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EEEstonian (Estonia)Guanidinoatsetaat:SCnc:Pt:Vereplekk:Qn:
Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FRFrench (France)Guanidinoacétate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BEFrench (Belgium)Guanidinoacétate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CAFrench (Canada)Guanidinoacétate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-ITItalian (Italy)Guanidinoacetato:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)guanidinoacetaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PLPolish (Poland)Guanidynooctan:stężenie molowe:punkt w czasie:sucha kropla krwi:ilościowy:
ru-RURussian (Russian Federation)Гуанидинацетат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TRTurkish (Turkey)Guanidinoasetat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CNChinese (China)胍基乙酸:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: GAA;胍乙酸;胍基醋酸 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

UnitSource
umol/LExample UCUM Units

107506-8 Guanidinoacetate/Creatine [Molar ratio] in DBS

Part Descriptions

LP30825-1   Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378 Source: Regenstrief LOINC

LP32032-2   Creatine
An amino acid that occurs in vertebrate tissues and in urine. In muscle tissue, creatine generally occurs as phosphocreatine. Creatine is excreted as CREATININE in the urine. Source: National Library of Medicine, MeSH 2006

Fully-Specified Name

Component
Guanidinoacetate/Creatine
Property
SRto
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.81
Last Updated
Version 2.81 (ADD)
Order vs. Observation
Both

Member of these Panels

LOINCLong Common Name
104191-2Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
el-GRGreek (Greece)Γουανιδινοξικό/Κρεατίνη:SRto:Pt:Bld.dot:Qn:
Synonyms: Bld.dot CHEM Pt Qn SRto Αίμα Γουανιδινοξικό Κρεατίνη
es-ESSpanish (Spain)Guanidinoacetato/Creatina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
fr-FRFrench (France)Guanidinoacétate/créatine:Moles ratio:Ponctuel:Sang buvard:Numérique:
it-ITItalian (Italy)Guanidinoacetato/Creatina:Srto:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NLDutch (Netherlands)guanidinoacetaat/creatine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pl-PLPolish (Poland)Guanidynooctan/kreatyna:współczynnik molowy:punkt w czasie:sucha kropla krwi:ilościowy:
ru-RURussian (Russian Federation)Гуанидинацетат/Креатин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TRTurkish (Turkey)Guanidinoasetat/Kreatin:SOrn:Zmlı:Kan.nokta:Kant:
Synonyms: SubsOranı
zh-CNChinese (China)胍基乙酸/肌酸:物质的量比率:时间点:全血.斑点:定量型:
Synonyms: Cr;甲胍;甲胍基乙酸;甲胍基醋酸;肌氨酸 GAA;胍乙酸;胍基醋酸 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 甲胍乙酸 血;血液

Example Units

UnitSource
umol/mmolExample UCUM Units