Most common form of BFS?

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Most common form of BFS?

Postby misterjuanperalta on October 31st, 2016, 9:23 pm

CREATINE DEFICIENCY SYNDROME (CDS)

SYMPTOMS
Symptoms 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.

CAUSES
In 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.

DIAGNOSIS
Creatine 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, Plasma

SOURCES
● Association for Creatine Deficiencies
● Movement Disorders in Childhood
● Mayo Medical Laboratories
● Inborn Metabolic Diseases: Diagnosis and Treatment
● Journal of Insulin Resistance
● Quest Diagnostics
Last edited by misterjuanperalta on June 29th, 2017, 6:54 pm, edited 42 times in total.
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Re: Most common form of BFS?

Postby leaflea on November 4th, 2016, 10:26 pm

Super interesting!!! I have used Some of those supplements. I am better. Whatcauses this problem and where did you find the info? Thank you!!
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Re: Most common form of BFS?

Postby garym on November 5th, 2016, 7:33 am

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Re: Most common form of BFS?

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