Until 2016, there were no guidelines for the diagnoses and treatment of CBS deficiency, MTHFR, or other Remethylation defects. These guidelines are designed to help doctors understand the diagnoses and treatment for these metabolic conditions.
Guidelines for the diagnoses and management of CBS deficiency.
The Journal of Inherited Metabolic Disease clinical guidelines for the diagnosis and management of cystathionine beta-synthase deficiency are now available online. You can find the article here.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
CONSENSUS RECOMMENDATIONS FOR THE DIAGNOSIS, TREATMENT AND FOLLOW-UP OF INHERITED METHYLATION DISORDERS.
The Journal of Inherited Metabolic Diseases also has published Consensus recommendations for the diagnoses, treatment and follow up of inherited methylation disorders. You can read the article here.
