54287-8
Guanidinoacetate [Moles/volume] in Cerebral spinal fluid
Active
Part Description
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
- CSF
- Scale
- Qn
- Method
Additional Names
- Long Common Name
- Guanidinoacetate [Moles/volume] in Cerebral spinal fluid
- Short Name
- Guanidinoacetate CSF-sCnc
- Display Name
- Guanidinoacetate (CSF) [Moles/Vol]
- Consumer Name Alpha Get Info
- Guanidinoacetate, Spinal fluid
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
79288-7 | Creatine and guanidinoacetate panel - Cerebral spinal fluid |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | Guanidinoacetat: Synonyms: Zerebrospinalflüssigkeit |
es-ES | Spanish (Spain) | Guanidinoacetato: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Guanidinoacetato: |
et-EE | Estonian (Estonia) | Guanidinoatsetaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Liikvor |
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 Liquido cerebrospinale Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | guanidinoacetaat: |
pt-BR | Portuguese (Brazil) | Guanidinoacetato: Synonyms: glycocyamine; |
ru-RU | Russian (Russian Federation) | Гуанидинацетат: Synonyms: Количественный Молярность; |
tr-TR | Turkish (Turkey) | Guanidinoasetat: |
zh-CN | Chinese (China) | 胍基乙酸: Synonyms: CSF CSF; |
Example Units
Unit | Source |
---|---|
umol/L | Example UCUM Units |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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LOINC Copyright
Copyright © 2024 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://