Version 2.77

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
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Guanidinoacetate DBS-sCnc
Display Name
Guanidinoacetate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
Guanidinoacetate, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8 Mucopolysaccharidosis type II newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Guanidinoacetato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Guanidinoacetato:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Guanidinoatsetaat:SCnc:Pt:Vereplekk:Qn:
Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR French (France) Guanidinoacétate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Guanidinoacétate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA French (Canada) Guanidinoacétate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Guanidinoacetato:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) guanidinoacetaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU Russian (Russian Federation) Гуанидинацетат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR Turkish (Turkey) Guanidinoasetat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 胍基乙酸:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: GAA;胍乙酸;胍基醋酸 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93488-5