79288-7

LOINC 2.82

Creatine and guanidinoacetate panel - Cerebral spinal fluid

Cr and GAA Pnl CSF

Definition

  • Measurements of guanidinoacetate (GAA) and creatine (Cr) in cerebrospinal fluid (CSF) are performed for biochemical diagnosis of Guanidinoacetate methyltransferase (GAMT) deficiency, an inherited metabolic disorder of creatine metabolism that is characterized by mental retardation, developmental delay or regression, mental retardation, expressive and cognitive speech delay, and intractable seizures and movement disturbances.[OMIM: 612736] [PMID: 15234334]

Component

  • Creatine & guanidinoacetate panel

Specimen / system

  • CSF

Class

  • PANEL.CHEM

Property

  • -

Scale

  • Qn

Related names

  • Cerebral spinal fluid; Cerebrospinal Fl; Chemistry; Cr and GAA Pnl; GAA; glycocyamine; guanidinoacetic acid; guanidoacetic acid; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; QNT; Quan; Quant; Quantitative; Random; Spinal Fl; Spinal Fld; Spinal Flu; Spinal Fluid

Index terms

  • Cerebral spinal fluid
  • Cerebrospinal Fl
  • Chemistry
  • Cr and GAA Pnl
  • Creatine & guanidinoacetate panel
  • GAA
  • glycocyamine
  • guanidinoacetic acid
  • guanidoacetic acid
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pnl
  • Point in time
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random
  • Spinal Fl
  • Spinal Fld
  • Spinal Flu
  • Spinal Fluid