Term Description

Used to assess abnormalities in the synthesis of creatine.

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

LOINC Names Get Info

Fully-Specified Name
Guanidinoacetate:SCnc:Pt:Ser/Plas:Qn:
Long Common Name
Guanidinoacetate [Moles/volume] in Serum or Plasma
Short Name
Guanidinoacetate SerPl-sCnc
Display Name
Guanidinoacetate [Moles/Vol]
Consumer Name Alpha Get Info
Guanidinoacetate, Blood

Part Model Get Info

  • Component
    Guanidinoacetate
    LP30825-1
    • Analyte
      Guanidinoacetate
      LP30825-1
      • Component Numerator
        Guanidinoacetate
        LP30825-1
        • Component Numerator Core
          Guanidinoacetate
          LP30825-1
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    SCnc
    LP6860-3
  • Time
    Pt
    LP6960-1
  • System
    Ser/Plas
    LP7576-4
    • System Core
      Ser/Plas
      LP7576-4
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.09
Last Updated
Version 2.73 (MIN)
Change Reason
Changed Plas to Ser/Plas based on documentation that ARUP can use either serum or plasma.
Order vs. Observation
Both
Common Test Rank Get Info
12429

Member of these Panels

LOINCLong Common Name
79289-5Creatine and guanidinoacetate panel - Serum or Plasma
104537-6Creatine, guanidinoacetate and creatinine panel - Serum or Plasma

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Guanidinacetát:Látková koncentrace:Časový bod:Sérum/plazma:Kvantitativní:
de-DEGerman (Germany)Guanidinoacetat:Stoffmengenkonzentration:Zeitpunkt:Serum oder Plasma:Quantitativ:
el-GRGreek (Greece)Γουανιδινοξικό:SCnc:Pt:Ορός/Πλάσμα:Qn:
Synonyms: CHEM Pt Qn SCnc Γουανιδινοξικό Ορός Ορός/Πλάσμα Πλάσμα
es-ARSpanish (Argentina)guanidinoacetato:concentración de sustancia:punto en el tiempo:plasma:cuantitativo:
es-ESSpanish (Spain)Guanidinoacetato:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Guanidinoacetato:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
et-EEEstonian (Estonia)Guanidinoatsetaat:SCnc:Pt:S/P:Qn:
Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Plasma Seerum Seerum või plasma
fr-CAFrench (Canada)Guanidinoacétate:Concentration de substance:Temps ponctuel:Sérum/Plasma:Quantitatif:
fr-FRFrench (France)Guanidinoacétate:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
fr-BEFrench (Belgium)Guanidinoacétate:Concentration de substance:Temps ponctuel:Sérum/Plasma:Quantitatif:
it-ITItalian (Italy)Guanidinoacetato:SCnc:Pt:Siero/Plasma:Qn:
Synonyms: Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma
ko-KRKorean (Korea, Republic Of)Guanidinoacetate:물질농도:검사시점:혈장:정량:
nl-NLDutch (Netherlands)guanidinoacetaat:mol/volume:moment:serum of plasma:kwantitatief:
pl-PLPolish (Poland)Guanidynooctan:stężenie molowe:punkt w czasie:surowica lub osocze:ilościowy:
pt-BRPortuguese (Brazil)Guanidinoacetato:SCnc:Pt:Plasma:Qn:
Synonyms: glycocyamine; guanidoacetic acid; guanidinoacetic acid; GAA; Substance concentration; Level; Point in time; Random; Plasma; Pl; Plsm; Quantitative; QNT; Quant; Quan; Chemistry
ru-RURussian (Russian Federation)Гуанидинацетат:МолКонц:ТчкВрм:Сыв/Плаз:Колич:
Synonyms: Количественный Молярность;Молярная объёмная концентрация Плазма Сыворотка Сыворотка или Плазма Точка во времени;Момент
tr-TRTurkish (Turkey)Guanidinoasetat:SubKons:Zmlı:Ser/Plaz:Kant:
zh-CNChinese (China)胍基乙酸:物质的量浓度:时间点:血清/血浆: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) 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 血清或血浆

Example Units

UnitSource
mmol/mLExample UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=33244-5