Supplemental Table 1: The 39 state NBS programs for which we have at least some data included in this study.

Alabama (AL)
Alaska (AK)
Arizona (AZ)
Arkansas (AR)
California (CA)
Colorado (CO)
Delaware (DE)
Florida (FL)
Georgia (GA)
Hawaii (HI)
Idaho (ID)
Illinois (Il)
Indiana (IN)
Iowa (IA)
Kansas (KS)
Louisiana (LO)
Maine (ME)
Maryland (MD)
Michigan (MI)
Missouri (MO)
Mississippi (MS)
Montana (MT)
Nebraska (NE)
Nevada (NV)
New Jersey (NJ)
New Mexico (NM)
New York (NY)
North Carolina (NC)
Ohio (OH)
Oregon (OR)
South Carolina (SC)
South Dakota (SD)
Tennessee (TN)
Texas (TX)
Utah (UT)
Vermont (VT)
West Virginia (WV)
Wisconsin (WI)
Wyoming (WY)

Supplemental Table 2: 25th,50th, and 75th percentile numbers for the state newborn populations illustrated in Figure 3.The numbers of years of data included in each calculation for each state are noted in parentheses in Figure 2.

State NBS Program / Cases of classic galactosemia per 100,000 births / Cases of Duarte galactosemia per 100,000 births / Galactosemia false positives per 100,000 births
Percentile: / 25th / 50th / 75th / 25th / 50th / 75th / 25th / 50th / 75th
Alabama (AL) / 0 / 1.7 / 3.4 / 0 / 1.6 / 14.5 / 4.7 / 15.4 / 27.7
Alaska (AK) / 0 / 0 / 0 / 0 / 8.9 / 17.1 / 32.6 / 65.7 / 150.8
Arizona (AZ) / 1.1 / 2.0 / 2.1 / 5.4 / 6.6 / 7.9 / 90.0 / 176.2 / 262.5
Arkansas (AR) / 0 / 2.7 / 2.7 / 8.2 / 34.7 / 52.4 / 40.9 / 154.8 / 508.2
California (CA) / 0.7 / 1.1 / 1.3 / 4.1 / 4.5 / 5.9 / 5.4 / 7.1 / 9.1
Florida (FL) / 0.9 / 1.5 / 2.5 / 9.4 / 9.6 / 9.8 / 20.5 / 20.5 / 20.5
Georgia (GA) / 0.9 / 1.8 / 2.3 / 15.0 / 17.3 / 17.8 / 398.9 / 536.9 / 657.8
Illinois (IL) / 0.6 / 1.1 / 2.8 / 3.1 / 5.0 / 10.6 / 18.1 / 30.0 / 114.2
Indiana (IN) / 1.2 / 2.3 / 3.8 / ND / ND / ND / ND / ND / ND
Kansas (KS) / 0 / 2.3 / 2.8 / 1.8 / 2.6 / 4.8 / 14.9 / 30.3 / 49.4
Maine (ME) / 0 / 0 / 7.2 / 14.6 / 21.4 / 24.3 / 21.5 / 40.4 / 44.9
Michigan (MI) / 0 / 1.6 / 3.2 / 7.5 / 9.7 / 17.9 / 17.5 / 23.3 / 31.7
Mississippi (MS) / 0 / 2.6 / 4.7 / 0 / 2.5 / 5.9 / ND / ND / ND
Missouri (MO) / 1.2 / 2.5 / 4.6 / 15.1 / 31.7 / 34.5 / 5.3 / 8.6 / 27.0
Nebraska (NE) / 0 / 0 / 0 / 0 / 3.7 / 14.2 / 0 / 21.1 / 33.7
New Jersey (NJ) / 0.9 / 2.2 / 5.0 / 20.6 / 31.6 / 56.3 / 14.4 / 30.5 / 40.1
New York (NY) / 1.6 / 1.6 / 2.6 / 0 / 0.4 / 0.4 / 0.7 / 2.0 / 3.3
South Carolina (SC) / 0 / 1.7 / 1.9 / 12.2 / 20.7 / 27.1 / 475.2 / 575.5 / 704.7
Utah (UT) / 1.3 / 1.9 / 4.2 / 18.7 / 29.4 / 41.9 / 64.6 / 89.4 / 116.8
Wisconsin (WI) / 1.4 / 1.5 / 2.9 / 1.4 / 5.0 / 7.5 / 2.9 / 79.9 / 135.9

Supplemental Table 3: Total numbers of infants diagnosed with classic and Duarte galactosemia by gender in eight states.

Classic Galactosemia / Duarte Galactosemia
State / Years / Male / Female / Unknown / Male / Female / Unknown
AL / 2006-2011 / 3 / 4 / 0 / 17 / 34 / 0
IL / 1990-2011 / 32 / 31 / 0 / 147 / 125 / 7
MI / 2004-2010 / 9 / 4 / 0 / 41 / 58 / 1
MO / 2007-2011 / 6 / 5 / 0 / 48 / 56 / 0
MS / 2003-2011 / 3 / 7 / 0 / 4 / 7 / 0
NY / 1994-2011 / 47 / 44 / 0 / 9 / 6 / 0
SC / 2000-2011 / 6 / 4 / 0 / 88 / 84 / 3
WI / 1989-2011 / 15 / 16 / 0 / 40 / 36 / 0
TOTAL / 121 / 115 / 0 / 394 / 406 / 11
% / 51% / 49% / 0% / 49% / 50% / 1%

Supplemental Table 4: Racial distribution of infants identified with classic and Duarte galactosemia. Only those racial groups reporting affected cases are listed; infants categorized racially as “Other” or “Unknown” are not included here. Averages by race were calculated from the number of cases reported per 100,000 births/year for each of the states listed; averages were not adjusted for the different numbers of years of data, or the different numbers of births per year, for the different states. **For Duarte galactosemia the averages calculated did not include data from NY because newborn screening in that state is not intended to detect DG.

Cases of classicgalactosemia per
100,000 births/year / Cases of Duarte galactosemia
per 100,000 births/year
STATE / RACE / White / African American / Asian / Pacific Islander / White / African American / Asian / Pacific Islander
AL
2006-2011 / 0.8 / 3.4 / 0.0 / 17.8 / 2.6 / 0.0
IL
2001-2011 / 1.6 / 2.0 / 1.0 / 8.7 / 6.7 / 6.9
MI
2004-2010 / 1.3 / 0.6 / 0.0 / 12.1 / 1.9 / 3.2
MO
2007-2011 / 2.0 / 4.6 / 0.0 / 27.2 / 1.5 / 18.6
MS
2003-2011 / 2.9 / 0.6 / 0.0 / 4.3 / 0.6 / 0.0
NY
1994-2011 / 2.0 / 2.4 / 0.4 / 0.3 / 0.2 / 0.0
SC
2001-2011 / 1.0 / 2.3 / 0.0 / 29.8 / 13.6 / 0.0
WI
2001-2011 / 2.0 / 0.0 / 0.0 / 5.2 / 0.0 / 0.0
Average: / 1.7±0.67 / 1.99±1.55 / 0.18±0.36 / 14.5±10.65 / 3.84±4.82 / ND

Supplemental Table 5: GALT genotyping results of 242 samples tested at the Emory Genetics Lab (2008-2012). *Diagnostic category (classic, Duarte, or carrier) was imputed using biochemical results (GALT activity and gal-1P level) together with GALT genotyping. **Alleles declared "unknown" were believed to be impaired but did not carry any of the specific mutations tested in the panel at that time (S135L, T138M, Q188R, L195P, Y209C, L218L, K285N, N314D, c.-119_-116del, IVS2-2A>G, and the 5.0kb deletion).

22 with classic galactosemia*
(GG) / Allele 1 / Allele 2 / # Patients
Q188R / Q188R / 10
5 kb deletion / 1
K285N / 1
S135L / 1
Y209C / 1
S135L / S135L / 1
K285N / 1
Unknown** / Q188R / 2
S135L / 1
Unknown** / Unknown** / 3
127 with Duarte galactosemia* (DG) / N314D
(+c.-119_-116delGTCA)
(D2 allele) / Q188R / 83
K285N / 7
S135L / 5
IVS2-2A>G / 2
T138M / 2
5 kb deletion / 1
L195P / 1
Y209C / 1
Unknown** / 24
D2 + Unknown** / 1
93 carriers*
(GN) / Negative / Q188R / 47
S135L / 19
L195P / 7
IVS2-2A>G / 3
K285N / 2
T138M / 1
Unknown** / 14

Supplemental Table 6: Recommended intervention for infants diagnosed with Duarte galactosemia.

No dietary intervention recommended for DG / If DG infant on formula switch to soy; if breastfeeding do not intervene / Different specialists recommend different interventions for DG / At least partial dietary intervention for the first year of life recommended for every DG infant
Colorado
Montana
Utah
Wisconsin
Wyoming
(5/28 = 18%) / Alabama
Delaware
Iowa
Maryland
South Dakota
Vermont
(6/28 = 21%) / Alaska
Florida
Hawaii
Idaho
Nevada
New Mexico
New York
Oregon
South Carolina
Texas
(10/28 = 36%) / Georgia
Indiana
Kansas
Michigan
Mississippi
Nebraska
North Carolina
(7/28 = 25%)

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