Autism Spectrum Disorder-associated Biomarkers for Case Evaluation and Management by Clinical Geneticists

David A. Geier; Mark R. Geier

Disclosures

Expert Rev Mol Diagn. 2008;8(6):671-674. 

In This Article

Trans-sulfuration Biomarkers

The trans-sulfuration pathway starts with homocysteine. Homocysteine can either be remethylated to methionine or irreversibly removed from the methionine cycle by cystathionine ß-synthase, which removes homocysteine from the methionine cycle and initiates the trans-sulfuration pathway for the synthesis of cysteine, glutathione, sulfate and taurine.[21] Recent ASD studies showed abnormal metabolites within this pathway,[22,23,24,25] and a correlation between metabolite abnormalities and clinical severity.[26] In addition, low levels of the trans-sulfuration pathway metabolite, glutathione, may be associated with mercury-intoxication, as reflected by a significant correlation between levels of plasma oxidized glutathione and mercury-intoxication associated urinary porphyrins.[12]

Trans-sulfuration biomarkers available from LabCorp include serum megaloblastic anemia profile (Test#706960), glutathione (Test#853002) and taurine (Test#910844). Supplementation with targeted nutritional interventions, such as methylcobalamin (vitamin B12), folinic acid, and pyroxidine (vitamin B6) in ASDs with trans-sulfuration abnormalities helped to improve clinical and laboratory findings.[25,27]

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