LOINC display name : Creatine, guanidinoacetate and creatinine panel (U);
LOINC long common name : Creatine, guanidinoacetate and creatinine panel - Urine;
LOINC short name : Cr, GAA and Creat Pnl Ur;
LOINC description : Measurements of guanidinoacetate (GAA) and creatine (Cr) in urine 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