Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency

Early-onset Krabbe disease:

• Changing muscle tone from floppy to rigid (decerebrate posturing)
• Hearing loss that leads to deafness
• Failure to thrive
• Feeding difficulties
• Irritability and sensitivity to loud sounds
• Severe seizures (may begin at a very early age)
• Unexplained fevers
• Vision loss that leads to blindness
• Vomiting

Late-onset Krabbe disease:

Vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may occur.

An exam of the retina in the eye may show damage to the optic nerve. There may be signs or deafness and abnormal posturing in the late stages of the disorder.

Tests that may be done include:

• Blood test to look for galactosylceramidase levels in white blood cells
• CSF total protein
• MRI of the head
• Nerve conduction velocity
• Testing for the GALC gene defect

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Krabbe disease Overview

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Krabbe disease Treatment

Review Date: 04/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)