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Welcome! This forum is a place to share what we've learned about GCH1 gene mutations and the gs224 genoset.

Three homozygous mutations on the GCH1 (GTP cyclohydrolase 1) gene may cause a tetrahydrobiopterin (BH4) deficiency, leading to raised phenylalanine and lowered tyrosine and dopamine. SNPedia and Promethease flag this group of mutations with the gs224 genoset. The affected SNPs have ambiguous flips which may make determining them tricky, but Promethease should interpret them correctly. You may have a BH4 deficiency if you have this double-CAT mutation on GCH1.

If you carry the gs224 genoset, please join the group so we can compare notes!

Thanks,

~JB





Medical disclaimer: The information on this site is not a substitute for professional medical advice. This group is intended to provide a place for informal information sharing among nonmedical people with GCH1 mutations. Always consult your doctor before making any healthcare decisions and before taking any supplement.

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