LOINC display name : Creatine and guanidinoacetate panel (CSF);
LOINC long common name : Creatine and guanidinoacetate panel - Cerebral spinal fluid;
LOINC short name : Cr and GAA Pnl CSF;
LOINC description : 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];
Has component