Monday, December 12, 2016

What is the Primary Cause for BFS / CFS?

The following information has come from Juan Peralta. Juan has been studying BFS/CFS since being inflicted with the syndrome / disorder. Juan believes he has found the primary cause for BFS/CFS. I am not sure if that is true or not (it does not explain my cause and it is impossible to prove this without an extensive study), but it is certainly worth displaying what Juan discovered (of course with Juan’s consent) because it may help someone inflicted with BFS/CFS. What Juan suggests as being the primary cause for BFS/CFS appears to be a logical and reasonable conclusion. Below is what Juan has discovered:

CREATINE DEFICIENCY SYNDROME (CDS)

GUANIDINOACETATE METHYLTRANSFERASE (GAMT) DEFICIENCY

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.

POTENTIAL CAUSE

Hyperinsulinemia, compounded with hyperglycemic glycation (and/or damage) of the fragile renal tubules, results in overall fluid retention, manifesting as edema.

DIAGNOSIS

Creatine Transporter Deficiency (CTD) and Guanidinoacetate Methyltransferase (GAMT) 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. Impaired function of SLC6A8 in renal tubular cells and subsequent reduced tubular re-uptake of creatine is the likely causative factor. Plasma creatinine concentrations, in particular urinary creatinine excretion, are low in patients with Creatine Deficiency Syndrome (CDS). The diagnosis of Guanidinoacetate Methyltransferase (GAMT) Deficiency is made by finding an accumulation of Guanidinoacetate (GAA) greater than 760 nmol/mL in body fluids. Mutations in the GAMT gene cause Guanidinoacetate Methyltransferase (GAMT) deficiency.

LIMITED TREATMENT

● Coenzyme B-Complex Advanced Vitamins (Brand: Country Life)

● Amino Acids (L-Glycine, L-Arginine, L-Methinone, L-Orthinine, Creatine Monohydrate)

TESTING

● Creatine 24-Hour, 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

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