What states test for Krabbe disease at birth?

Currently, New York, Missouri, Kentucky, Tennessee, Illinois, New Jersey, Ohio, Indiana, and Pennsylvania are the only states that currently screen all newborns for Krabbe Disease.

What diseases are screened in newborns?

Newborn screening tests may include:

• Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine.
• Congenital hypothyroidism.
• Galactosemia.
• Sickle cell disease.
• Maple syrup urine disease.
• Homocystinuria.
• Biotinidase deficiency.
• Congenital adrenal hyperplasia.

How is Krabbe disease tested?

Krabbe disease is diagnosed based on the symptoms, clinical exam, and additional testing to check for the level of an enzyme that is low in people with Krabbe disease. This testing generally includes a blood test and/or skin biopsy . Diagnosis may be confirmed by the results of genetic testing .

When to test for Krabbe disease in newborns?

Detecting Krabbe Disease in newborns Newborn screening for Krabbe Disease can happen along with routine newborn screening for other conditions during the first few days of life. N ewborn Krabbe Disease screening measures GALC enzyme levels and looks for changes in the GALC gene.

What happens if the Krabbe test is out of range?

If your baby’s newborn screening result for Krabbe was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition.

What are the effects of Krabbe in babies?

Krabbe is associated with muscle stiffness, blindness, deafness, and eventually death. For some individuals with Krabbe, detecting it early and beginning treatment prior to the onset of symptoms may help to prevent some of the severe health outcomes associated with the condition.

What does Krabbe stand for in medical terms?

Krabbe is due to a change, also known as a mutation, in a gene that encodes for an enzyme called galactocerebroside beta-galactosidase (GALC). This change means that the body does not create GALC properly, which is necessary for the production of myelin. Myelin is a protective material that surrounds the nerves.