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Table 4 Projected US prevalence of diagnosed HCU, elevated tHcy without HCU, and diagnosed PKU

From: Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison

 US Populationa
N = 323,127,513
Strictly-defined HCUbBroadly-defined HCUcElevated tHcydPKUe
Unadjusted prevalencef(N, 95% CI)8137 (7815–8459)21,963 (21434–22,493)85,758 (82015–89,500)17,005 (16539–17,471)
Age-adjusted prevalence (N, 95% CI)12,113 (11634–12,593)31,162 (30411–31,913)89,470 (85565–93,374)16,615 (16160–17,070)
  1. aUS Census Bureau estimate of the US resident population on July 1, 2016; b > 2 HCU diagnoses, including > 1 ICD-10 diagnosis; c > 1 ICD-10 HCU diagnosis; d tHcy lab result > 20 μmol/L; e > 1 ICD-9 or ICD-10 PKU diagnosis; f Prevalence estimates are for 1/1/2017 and assume that the incidence and duration of HCU and PKU remained constant throughout the study period (1/1/2010–12/31/2016); CI: confidence interval