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2 FEB 2024 4:20 PM ET
BY QUINN EASTMAN
... On Tuesday, in a key step toward eliminating this disparity, the U.S. Advisory Committee on Heritable Disorders in Newborns and Children voted 10-3 to recommend the addition of infantile Krabbe disease to the Recommended Uniform Screening Panel (RUSP), a national guideline for which inherited disorders all newborns should be tested for. That means that Krabbe will eventually be part of more state newborn screening programs. In the United States, more than 3 million newborn babies undergo testing for rare metabolic diseases, by having their heels pricked to produce blood spots that are then analyzed for biochemical abnormalities.
... There are various forms of Krabbe, and the infant-onset version is rare. With expanded screening nationwide, about 11 more families per year could be told that their newborn baby likely has the condition and referred for a transplant, according to estimates presented to the committee.
... Caused by mutations in a gene encoding the lysosomal enzyme galactocerebrosidase(GALC), critical for maintaining the nerve cell insulation known as myelin, infantile-onset Krabbe disease shows up in the first 6 months of life, with symptoms such as loss of muscle tone, spasticity, seizures, and loss of hearing and sight. Without intervention, most affected children die before age 2. The only currently established treatment is a hematopoietic stem cell transplant (HSCT), which saves lives but still leaves most children who have Krabbe with some functional impairment.
BY QUINN EASTMAN
... On Tuesday, in a key step toward eliminating this disparity, the U.S. Advisory Committee on Heritable Disorders in Newborns and Children voted 10-3 to recommend the addition of infantile Krabbe disease to the Recommended Uniform Screening Panel (RUSP), a national guideline for which inherited disorders all newborns should be tested for. That means that Krabbe will eventually be part of more state newborn screening programs. In the United States, more than 3 million newborn babies undergo testing for rare metabolic diseases, by having their heels pricked to produce blood spots that are then analyzed for biochemical abnormalities.
... There are various forms of Krabbe, and the infant-onset version is rare. With expanded screening nationwide, about 11 more families per year could be told that their newborn baby likely has the condition and referred for a transplant, according to estimates presented to the committee.
... Caused by mutations in a gene encoding the lysosomal enzyme galactocerebrosidase(GALC), critical for maintaining the nerve cell insulation known as myelin, infantile-onset Krabbe disease shows up in the first 6 months of life, with symptoms such as loss of muscle tone, spasticity, seizures, and loss of hearing and sight. Without intervention, most affected children die before age 2. The only currently established treatment is a hematopoietic stem cell transplant (HSCT), which saves lives but still leaves most children who have Krabbe with some functional impairment.