Krabbe disease is a rare, hereditary degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbe disease is one of a group of genetic disorders called the leukodystrophies.
These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills. Myelin is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.
Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.
Overall calculated European frequency is 1 case per 100,000, with a higher reported incidence in Sweden of 1.9 cases per 100,000. An unusually high incidence, 6 cases per 1000 live births, is reported in the Druze community in Israel.
Developing new biochemical markers
New methods, such as mass spectrometry, provide a good chance of characterizing specific metabolic alterations in the blood (plasma) of affected patents that will allow us to diagnose the disease earlier in the future, with higher sensitivity and specificity. Therefore, it is the goal of this study to develop new biochemical markers from the plasma of affected patients, helping to benefit the patient with early diagnosis and thereby with earlier treatment.