Galactosemia

Physician Information

 

The following information describes the interrelationships between the conditions screened in newborn screening laboratories and the markers (analytes) used for screening. For each marker(s), there is:

 

 

By clicking on either the ACT sheet or Algorithm for a particular condition, you will be linked to the corresponding materials.

The algorithms were developed by a work group that included experts in the various specialties and conditions involved in newborn screening for endocrine, hematological, genetic and metabolic diseases. The first page of the ACT sheets includes information that was developed by the experts. It includes links to informational resources to allow health professionals to obtain additional information, if needed.

Condition-specific State and National resources are listed on a separate web page that can be accessed from this link

To view the PDF files below, you must have the free Adobe Reader, version 4 or later. If you do not have a copy of this free software, you may download the latest version from the Adobe website.



 

Newborn Screening Condition - Analyte Table
Condition Analyte Links (PDF)
Classical Galactosemia GALT ACTion Sheet Algorithm
Elevated galactose + deficient GALT ACTion Sheet Algorithm
Galactokinase deficiency Elevated galactose +/- deficient GALT
Galactose epimerase deficiency Elevated galactose +/- deficient GALT

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Family Information

 

 

View Family Resources

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Galactosemia Prevalence by State

 

The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.

 

2005 Confirmed Cases
State: IL IN OH MI WI MN KY TOTALS
Total Births: 175659 85570 144509 124942 70934 71058 52222 724894
GALT: Transferase Deficient Galactosemia 5 2 7 4 2 4 2 26
Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency 1 0 0 0 0 0 0 1
Galactosemia due to galactokinase (GALK) deficiency 0 0 0 0 0 0 0 0
Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency 17 38 40 0 0 5 0 100

2004 Confirmed Cases
State: IL IN OH MI WI MN KY TOTALS
Total Births: 177603 87942 142023 134103 66625 70579 50930 729805
GALT: Transferase Deficient Galactosemia 0 0 0 2 0 1 1 4
Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency 2 1 0 0 0 0 0 3
Galactosemia due to galactokinase (GALK) deficiency 0 0 0 0 0 0 0 0
Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency 10 24 0 27 0 0 10 71

2003 Confirmed Cases
State: IL IN OH MI WI MN KY TOTALS
Total Births: 182590 86382 151983 130937 70053 70157 55281 747383
GALT: Transferase Deficient Galactosemia 2 0 0 1 2 0 0 5
Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency 0 2 0 0 0 0 0 2
Galactosemia due to galactokinase (GALK) deficiency 0 0 0 0 0 0 0 0
Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency 14 57 0 0 0 0 15 86

2002 Confirmed Cases
State: IL IN OH MI WI MN KY TOTALS
Total Births: 180622 84618 148720 129967 68560 68025 54233 734745
GALT: Transferase Deficient Galactosemia 4 0 0 6 0 0 2 12
Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency 0 3 0 0 0 0 0 3
Galactosemia due to galactokinase (GALK) deficiency 0 0 0 0 0 0 0 0
Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency 8 70 0 0 0 0 6 84

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