[4] Symptoms in asymptomatic infantile-onset (<12 months after birth) and later-onset Krabbe disease present themselves differently.

Of individuals with infantile-onset Krabbe disease, 85–90% display progressive neurologic deterioration in infancy and death before the age of two.

[5] Symptoms include irritability, fevers, limb stiffness, seizures, feeding difficulties (like GERD), vomiting, staring episodes, and slowing of mental and motor development.

These individuals may also display symptoms such as esotropia, slurred speech, and slow development or loss of motor milestones.

[5] Krabbe disease is caused by mutations in the GALC gene located on chromosome 14 (14q31),[7] which is inherited in an autosomal recessive manner.

As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin.

[citation needed] Galactosylceramidase deficiency also results in a buildup of a glycosphingolipid called psychosine, which is toxic to oligodendrocytes, a type of non-neuronal cell found in the nervous system, collectively termed neuroglia.

[5] High concentration of psychosine in dried blood spots may also be identified as a marker for Krabbe disease.

Special stains for myelin (e.g., luxol fast blue) may be used to aid diagnosis[citation needed].

[19] Because there is no treatment for Krabbe disease, management of the condition is typically supportive and aimed at alleviating symptoms.

Later onset of symptoms is associated with longer life expectancy, with older children generally surviving two to seven years after the initial diagnosis.

[24] Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for Krabbe disease following the diagnosis of his son, Hunter, in 1997.

[citation needed] They created Hunter's Hope - a foundation that seeks to advance Newborn Screening, research, and treatments, and provides support to families of leukodystrophy children.

[citation needed] As an example, Cove Ellis is a child from Georgia, United States who was diagnosed with the disease in early 2016.