JuanitaPeralta
Well-known member
CREATINE DEFICIENCY SYNDROME (CDS) SYMPTOMSSymptoms can include, but are not limited to, speech difficulty, fatigue, pyramidal and/or extra-pyramidal manifestations, brisk reflexes, seizures and movement disorders, such as essential tremors, cramps and/or spasms and fasciculations.CAUSESIn susceptible individuals, primary hyperinsulinemia, compounded with hyperglycemic glycation of the fragile renal tubules, may precede the reduced tubular re-uptake of creatine in Creatine Transporter Deficiency (CTD). Genetic mutations are the cause of Guanidinoacetate Methyltransferase (GAMT) and Arginine:Glycine Amidinotransferase (AGAT) deficiencies.DIAGNOSISCreatine Transporter Deficiency (CTD), Guanidinoacetate Methyltransferase (GAMT) Deficiency and Arginine:Glycine Amidinotransferase (AGAT) Deficiency are part of the Creatine Deficiency Syndrome (CDS) spectrum. The biochemical test for Creatine Transporter Deficiency (CTD) is the urine Creatine (CR): Creatinine (CRN) ratio. A value greater than 1.5 is 100% specific for a diagnosis in males. The diagnosis of Guanidinoacetate Methyltransferase (GAMT) Deficiency is made by finding an accumulation of Guanidinoacetate (GAA) greater than 710 nmol/mL in males. The diagnosis of Arginine:Glycine Amidinotransferase (AGAT) Deficiency is made by finding levels of Guanidinoacetate less than 30 nmol/mL in males and females.SUPPLEMENTATION● Coenzymated B Complex● Amino Acids and/or Uridine Monophosphate (precursors)TESTING● Amino Acid Analysis, LC/MS, Plasma● Organic Acids, Full Panel, Quantitative, Urine● Creatine Guanidinoacetate, PlasmaSOURCES● Association for Creatine Deficiencies● Movement Disorders in Childhood● Mayo Medical Laboratories● Inborn Metabolic Diseases: Diagnosis and Treatment● Journal of Insulin Resistance● Quest Diagnostics