Krabbe Disease - Symptoms and Treatment

Krabbe disease is inherited in an autosomalnot make enough of a substance called
recessive manner. If both parents are carriers,galactocerebroside beta-galactosidase
each child has a 25% chance of being affected, a(galactosylceramidase). The body needs this
50% chance of being an asymptomatic carrier,substance to make myelin, the material that
and a 25% chance of being unaffected and not asurrounds and protects nerve fibers. Without it,
carrier. Each healthy sib of a proband has a 2/3myelin breaks down, brain cells die, and nerves in
chance of being a carrier. For genetic counselingthe brain and other body areas do not work
purposes, a carrier frequency of one in 150 mayproperly. Symptoms The symptoms of Krabbe
be used for the general population. Prenataldisease usually begin before the age of 1 year
diagnosis is possible either by measurement of(the infantile form). Initial signs and symptoms
GALC enzyme activity or by molecular genetictypically include irritability, muscle weakness,
testing if both disease-causing alleles in anfeeding difficulties, episodes of fever without any
affected family member are known. Causessign of infection, stiff posture, and slowed mental
Krabbe disease is caused by mutations in theand physical development. As the disease
GALC gene, which causes a deficiency of anprogresses, muscles continue to weaken,
enzyme called galactosylceramidase. The buildupaffecting the infant's ability to move, chew,
of unmetabolized lipids affects the growth of theswallow, and breathe. Affected infants also
nerve's protective myelin sheath (the coveringexperience vision loss and seizures. The cause of
that insulates many nerves) and causes severeKrabbe disease is a deficiency in an enzyme called
degeneration of mental and motor skills. As partgalactocerebrosidase (GALC), which is essential
of a group of disorders known asfor the maintenance of myelin - a fatty substance
leukodystrophies, Krabbe disease results from thethat insulates your nerve fibers. A child needs to
imperfect growth and development of myelin.inherit an abnormal gene from each parent to
Persons with this gene defect do not maketrigger the disorder. Passing on the genes occurs
enough of a substance called galactocerebrosidein an inheritance pattern called autosomal
beta-galactosidase (galactosylceramidase). Therecessive. Specifically, Krabbe disease has been
body needs this substance to make myelin, thelinked to a defect in chromosome 14. Treatment
material that surrounds and protects nerve fibers.There is no cure for Krabbé disease. Results
Without it, myelin breaks down, brain cells die, andof a very small clinical trial of patients with infantile
nerves in the brain and other body areas do notKrabbé disease found that children who
work properly. The cause of Krabbe disease is areceived umbilical cord blood stem cells from
deficiency in an enzyme calledunrelated donors prior to symptom onset
galactocerebrosidase (GALC), which is essentialdeveloped with little neurological impairment.
for the maintenance of myelin - a fatty substanceResults also showed that disease progression
that insulates your nerve fibers. A child needs tostabilized faster in patients who receive cord blood
inherit an abnormal gene from each parent tocompared to those who receive adult bone
trigger the disorder. Passing on the genes occursmarrow. Bone marrow transplantation has been
in an inheritance pattern called autosomalshown to benefit mild cases early in the course of
recessive. A defect in the GALC gene causesthe disease. Generally, treatment for the disorder
Krabbe disease. Persons with this gene defect dois symptomatic and supportive.