107506-8
Guanidinoacetate/Creatine [Molar ratio] in DBS
Active
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
LOINC Names Get Info
- Fully-Specified Name
- Guanidinoacetate/Creatine:
SRto: Pt: Bld.dot: Qn: - Long Common Name
- Guanidinoacetate/Creatine [Molar ratio] in DBS
- Short Name
- Guanidinoacetate/Creatine DBS-sRto
- Display Name
- Guanidinoacetate/Creatine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Guanidinoacetate/Creatine, Dried blood spot
Part Model Get Info
- Component
- Guanidinoacetate/Creatine
LP442467-9
- Analyte
- Guanidinoacetate/Creatine
LP442467-9
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- SRto
LP6868-6
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld.dot
LP21304-8
- System Core
- Bld.dot
LP21304-8
- Super System
- NULL
- Scale
- Qn
LP7753-9
- Method
- NULL
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
| LOINC | Long Common Name |
|---|---|
| 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/Κρεατίνη: Synonyms: Bld.dot CHEM Pt Qn SRto Αίμα Γουανιδινοξικό Κρεατίνη |
| es-ES | Spanish (Spain) | Guanidinoacetato/Creatina: Synonyms: Cuantitativo |
| fr-FR | French (France) | Guanidinoacétate/créatine: |
| it-IT | Italian (Italy) | Guanidinoacetato/Creatina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat/creatine: |
| pl-PL | Polish (Poland) | Guanidynooctan/kreatyna: |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат/Креатин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat/Kreatin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 胍基乙酸/肌酸: Synonyms: Cr; |
Example Units
| Unit | Source |
|---|---|
| umol/mmol | Example UCUM Units |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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LOINC Copyright
Copyright © 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://