Urea Cycle Disorders
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:
- an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and
- an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant.
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.
| Amino Acidemias - Analyte Table | |||
| Condition | Analyte | Links (PDF) | |
| Argininemia | Arginine | ACTion Sheet | Algorithm |
| Argninosuccinic aciduria Citrullinemia I Citrullinemia II Pyruvate carboxylase deficiency |
Citrulline | ACTion Sheet | Algorithm |
Urea Cycle Disorders 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.
Coming Soon!
