Version 2.77

Description

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

Basic Part Properties

Part Display Name
Guanidinoacetate
Part Type
Component (Describes the core component or analyte measured)
Created On
2002-11-13
Construct for LOINC Short Name
Guanidinoacetate

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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 胍基乙酸
Synonyms: GAA;胍乙酸;胍基醋酸
fr-CA French (Canada) Guanidinoacétate
et-EE Estonian (Estonia) Guanidinoatsetaat
es-ES Spanish (Spain) Guanidinoacetato
it-IT Italian (Italy) Guanidinoacetato
tr-TR Turkish (Turkey) Guanidinoasetat
ru-RU Russian (Russian Federation) Гуанидинацетат
nl-NL Dutch (Netherlands) guanidinoacetaat
fr-BE French (Belgium) Guanidinoacétate