Krabbe Newborn Screening

Babies born in the United States undergo newborn screening (NBS) within a few days of their birth. The purpose of newborn screening is to identify babies with certain diseases that can be detected and treated before symptoms begin. If a definite diagnosis is confirmed early in life, treatment can also start early. Treatments have the potential to significantly limit the negative impact of the disease.

Newborn screening is a screening tool, not a diagnostic test. Every positive screen needs further testing, or confirmatory testing, to determine whether the disease is actually present and indeed a “true positive.” Though great effort is made to minimize “false positives,” they do exist.

Krabbe disease is a type of condition called a leukodystrophy. All leukodystrophies affect the white matter or myelin of the brain. Krabbe disease is a rare inherited genetic condition.

There are different types of Krabbe disease and each begins at a different age. Babies identified through newborn screening need to have additional testing to determine which type they might have.

Follow up and confirmatory testing will place the child into one of three categories: unaffected or “false positive,” infantile, or late onset. Babies who have the infantile form of Krabbe disease need to be seen urgently at the medical center your doctor recommends for disease-altering treatment to have the greatest impact. The goal of newborn screening is to identify these babies so that they can be quickly treated.