104191-2
Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
Active
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
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| One or more tests pending | LA16204-2 | ||
| Screen Negative | LA34518-3 | ||
| Screen Positive | LA34519-1 | ||
| Specimen unacceptable for at least one condition | LA34520-9 | ||
| Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) | LA9663-1 | ||
| Not tested | LA13538-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid 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 |
|---|---|---|
| el-GR | Greek (Greece) | Ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης: Synonyms: Imp |
| es-ES | Spanish (Spain) | Deficiencia de guanidinoacetato metiltransferasa: |
| fr-FR | French (France) | Guanidinoacétate méthyltransférase (GAMT) carence: |
| it-IT | Italian (Italy) | Deficit di guanidinoacetato-metiltransferasi: Synonyms: Chimica Deficit di GAMT Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | deficiëntie van guanidinoacetaatmethyltransferase: Synonyms: guanidinoacetaatmethyltransferasedeficiëntie |
| zh-CN | Chinese (China) | 胍基乙酸甲基转移酶缺陷: Synonyms: GAA; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
104195-3 Guanidinoacetate/Creatinine [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
LP32035-5 Creatinine
Creatinine or creatine anhydride, is a breakdown product of creatine phosphate in muscle. The loss of water molecule from creatine results in the formation of creatinine. It is transferred to the kidneys by blood plasma, whereupon it is eliminated by glomular filtration and partial tubular excretion. Creatinine is usually produced at a fairly constant rate and measuring its serum level is a simple test. A rise in blood creatinine levels is observed only with marked damage to functioning nephrons; therefore this test is not suitable for detecting early kidney disease. Creatine and creatinine are metabolized in the kidneys, muscle, liver and pancreas.
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
, Creatinine
Fully-Specified Name
- Component
- Guanidinoacetate/Creatinine
- Property
- SRto
- 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
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γουανιδινοξικό/Κρεατινίνη: Synonyms: SRto |
| es-ES | Spanish (Spain) | Guanidinoacetato/Creatinina: Synonyms: Cuantitativo |
| fr-BE | French (Belgium) | Guanidinoacétate/Créatinine: |
| fr-CA | French (Canada) | Guanidinoacétate/Créatinine: |
| fr-FR | French (France) | Guanidinoacétate/créatinine: |
| it-IT | Italian (Italy) | Guanidinoacetato/Creatinina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat/creatinine: Synonyms: kreatinine |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат/Креатинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat/Kreatinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 胍基乙酸/肌酐: Synonyms: CR; |
Example Units
| Unit | Source |
|---|---|
| umol/mol{creat} | Example UCUM Units |
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
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid 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 |
|---|---|---|
| el-GR | Greek (Greece) | Κρεατίνη: Synonyms: SCnc |
| es-ES | Spanish (Spain) | Creatina: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Kreatiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Créatine: |
| fr-BE | French (Belgium) | Créatine: |
| fr-CA | French (Canada) | Créatine: |
| it-IT | Italian (Italy) | Creatina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | creatine: |
| pl-PL | Polish (Poland) | Kreatynina: |
| ru-RU | Russian (Russian Federation) | Креатинин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Kreatin: |
| zh-CN | Chinese (China) | 肌酸: Synonyms: Cr; |
Example Units
| Unit | Source |
|---|---|
| mmol/L | Example 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
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid 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 |
|---|---|---|
| el-GR | Greek (Greece) | Σχόλιο για την ανεπάρκεια γουανιδινοξικής μεθυλοτρανσφεράσης: Synonyms: Txt |
| es-ES | Spanish (Spain) | Comentario a la deficiencia de guanidinoacetato metiltransferasa: |
| fr-FR | French (France) | Guanidinoacétate méthyltransférase (GAMT) carence (commentaire): |
| it-IT | Italian (Italy) | Deficit di guanidinoacetato-metiltransferasi, commento: Synonyms: Chimica Commento di Deficit di guanidinoacetato-metiltransferasi Deficit di GAMT Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | opmerking over deficiëntie van guanidinoacetaatmethyltransferase: Synonyms: guanidinoacetaatmethyltransferasedeficiëntie |
| zh-CN | Chinese (China) | 胍基乙酸甲基转移酶缺陷注释: Synonyms: GAA; |
104196-1 Creatine/Creatinine [Molar ratio] 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)
LP32035-5 Creatinine
Creatinine or creatine anhydride, is a breakdown product of creatine phosphate in muscle. The loss of water molecule from creatine results in the formation of creatinine. It is transferred to the kidneys by blood plasma, whereupon it is eliminated by glomular filtration and partial tubular excretion. Creatinine is usually produced at a fairly constant rate and measuring its serum level is a simple test. A rise in blood creatinine levels is observed only with marked damage to functioning nephrons; therefore this test is not suitable for detecting early kidney disease. Creatine and creatinine are metabolized in the kidneys, muscle, liver and pancreas.
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
, Creatinine
Fully-Specified Name
- Component
- Creatine/Creatinine
- Property
- SRto
- 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
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid 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 |
|---|---|---|
| el-GR | Greek (Greece) | Κρεατίνη/Κρεατινίνη: Synonyms: SRto |
| es-ES | Spanish (Spain) | Creatina/Creatinina: Synonyms: Cuantitativo |
| fr-CA | French (Canada) | Créatine/Créatinine: |
| fr-FR | French (France) | Créatine/créatinine: |
| fr-BE | French (Belgium) | Créatine/Créatinine: |
| it-IT | Italian (Italy) | Creatina/Creatinina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | creatine/creatinine: Synonyms: kreatinine |
| pl-PL | Polish (Poland) | Kreatynina/kreatynina: |
| ru-RU | Russian (Russian Federation) | Креатинин/Креатинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Kreatin/Kreatinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肌酸/肌酐: Synonyms: CR; |
Example Units
| Unit | Source |
|---|---|
| mmol/mol{creat} | Example UCUM Units |
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
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γουανιδινοξικό: Synonyms: SCnc Γουανιδινοξικό |
| es-MX | Spanish (Mexico) | Guanidinoacetato: |
| es-ES | Spanish (Spain) | Guanidinoacetato: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Guanidinoatsetaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Guanidinoacétate: |
| fr-FR | French (France) | Guanidinoacétate: |
| fr-BE | French (Belgium) | Guanidinoacétate: |
| it-IT | Italian (Italy) | Guanidinoacetato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat: |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat: |
| zh-CN | Chinese (China) | 胍基乙酸: Synonyms: GAA; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |