What Is Krabbe Disease?
Reviewed: Dr. Gromatzky
5. How Is Krabbe Disease Diagnosed?
Krabbe disease is a part of the standard new born screening since it is most often found in infants and is a genetic related disorder. The screening involves testing a baby’s galactolipid levels. Enzyme activity results provide insight into the child’s condition.
A medical professional may also conduct an eye exam, imaging such as a CT scan, nerve conduction studies, or a lumbar puncture. Both parents need to have a genetic test performed in order to know the risk of having a baby with Krabbe disease.
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