105124-2
Guanidinoacetate/Creatine [Molar ratio] in Serum or Plasma
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
Fully-Specified Name
- Component
- Guanidinoacetate/Creatine
- Property
- SRto
- Time
- Pt
- System
- Ser/Plas
- Scale
- Qn
- Method
Additional Names
- Long Common Name
- Guanidinoacetate/Creatine [Molar ratio] in Serum or Plasma
- Short Name
- Guanidinoacetate/Creatine SerPl-sRto
- Display Name
- Guanidinoacetate/Creatine [Molar ratio]
- Consumer Name Alpha Get Info
- Guanidinoacetate/Creatine, Blood
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.78
- Last Updated
- Version 2.78 (ADD)
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
104537-6 | Creatine, guanidinoacetate and creatinine panel - Serum or Plasma |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Γουανιδινοξικό/Κρεατίνη: Synonyms: SRto |
es-ES | Spanish (Spain) | Guanidinoacetato/Creatina: Synonyms: Cuantitativo |
fr-FR | French (France) | Guanidinoacétate/créatine: |
it-IT | Italian (Italy) | Guanidinoacetato/Creatina: Synonyms: Chimica Plasma Punto nel tempo (episodio) Rapporto di sostanza Siero Siero o Plasma |
nl-NL | Dutch (Netherlands) | guanidinoacetaat/creatine: |
ru-RU | Russian (Russian Federation) | Гуанидинацетат/Креатин: Synonyms: Количественный 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 |
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