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Recommended screening items: list of SNPs to consider MTHFR C677T/A1298C, FTO rs9939609, MC4R variants, FSHR polymorphisms, CYP19A1, ESR1/2, INS/IRS1, APOE alleles, and variants affecting thyroid hormone conversion (DIO2)

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The precise role of biotin treatment in THMD2 in unknown since the defect is in the transporter for cellular thiamine uptake