LOINC display name : Creatine and guanidinoacetate panel;
LOINC long common name : Creatine and guanidinoacetate panel - Serum or Plasma;
LOINC short name : Cr and GAA Pnl SerPl;
LOINC description : Measurements of guanidinoacetate (GAA) and creatine (Cr) in serum or plasma 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];
Has component