Use

Krabbe disease is a rare progressive neurodegenerative lysosomal storage disorder whose main feature is leukodystrophy. The test is intended for babies who test positive on newborn screening and for individuals in whom Krabbe disease is suspected. Screening can also be prompted by abnormal brain MRI images or cerebrospinal fluid protein levels. The disease manifests in early infancy with feeding problems, reflux, irritability, and hypertonicity transitioning to hypotonia. Seizures are common and often lead to early mortality within two years. Stem cell transplantation before symptom onset is the only available treatment, with varied outcomes in later-onset patients.