Krabbe disease is a genetic disorder that affects the myelin sheath and white matter of the brain, causing damage and deterioration. It most commonly affects infants under six months old and has no cure. Treatment is limited, but bone marrow or cord blood donation may be beneficial. The Hunter’s Hope Foundation, Myelin Project, and United Leukodystrophy Foundation provide support and resources.
Krabbe disease is a genetic disorder inherited by the expression of an autosomal recessive genetic pattern responsible for the production of a dominant trait. Specifically, the dominant trait involved in this disease is the formation of globoid cells, defined as cells with multiple nuclei. This abnormal development leads to damage and eventual deterioration of the myelin sheath, the protective layer of many nerves that also lends pigment to the brain’s “white matter.” Unfortunately, Krabbe disease, for which there is no cure, most commonly affects infants younger than six months, often with fatal results.
While this disorder involves a recessive gene, Krabbe disease is classified as a member of the family of degenerative disorders known as leukodystrophies. However, each leukodystrophy involves a different myelin regulatory gene, which may be X-linked, dominant, or recessive. Despite this difference, all of these disorders directly cause destruction of the myelin and white matter of the brain, just by a different mechanism. The particular genetic factor involved in Krabbe disease is a mutation of the GALC gene, which results in a lack of galactosylceramidase, one of the enzymes needed to regulate myelin metabolism.
As mentioned above, Krabbe disease usually appears in infants, usually between three and six months of age. However, most of the time these babies appear perfectly normal at birth. Only when a delay in motor development is noted can this disorder be suspected. Additional onset symptoms include seizures and limb stiffness. These symptoms may be accompanied by feeding difficulties with frequent vomiting, often mistakenly attributed to colic.
In very rare cases, Krabbe disease can be late in onset and occur in older children and even adults, who typically experience slower disease progression with milder symptoms. Generally, however, the prognosis is poor for children younger than two years of age. In fact, most of these children succumb to the disease. However, Hunter Kelly, son of former Buffalo Bill quarterback Jim Kelly, lived to age eight despite being diagnosed with the disorder in early childhood. In honor of his son, Kelly and his wife formed the Hunter’s Hope Foundation, a non-profit organization dedicated to providing resources and support to parents of children with Krabbe disease.
Treatment for Krabbe disease is minimal and usually meant to address the noticeable symptoms. However, some research indicates that donating bone marrow or cord blood (stem cells) to early-diagnosed recipients has been shown to be of some benefit. Meanwhile, research led by the National Institutes of Health and the National Institute of Neurological Disorders and Stroke continues. Other organizations that provide support and resources beyond Hunter’s Hope include the Myelin Project and the United Leukodystrophy Foundation.
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