Living with Galactosylceramide beta-galactosidase deficiency
Also called Krabbe disease: a severe nerve condition that damages the protective covering of nerves in the brain and body.
Understanding Galactosylceramide beta-galactosidase deficiency
It is a leukodystrophy, meaning it causes loss of myelin, the protective coating around nerve cells. The most common infantile form usually begins before age 1. Less often, it begins in childhood, the teen years, or adulthood, and symptoms vary a lot between people. Vision problems and trouble walking are common first signs in later-onset forms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Irritability
- Feeding difficulties
- Poor weight gain (failure to thrive)
- Fever without infection
- Muscle stiffness or spasms (spasticity)
- Delayed development or loss of skills
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in GALC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Krabbe Connect, Epilepsy Foundation and United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Krabbe Connect, Epilepsy Foundation, United Leukodystrophy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Krabbe Connect and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GALC gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: beta galactocerebrosidase deficiency; diffuse globoid body sclerosis; diffuse globoid cell cerebral sclerosis; galactocerebrosidase deficiency; galactocerebroside beta-galactosidase deficiency; galactosylceramidase deficiency
Patient organizations
- Krabbe ConnectGalactosylceramide beta-galactosidase deficiency · United States
- Hunter's Hope FoundationGalactosylceramide beta-galactosidase deficiency · United States
- Leukodystrophy Resource & Research OrganisationGalactosylceramide beta-galactosidase deficiency · Rosenau Family Research Foundation
- Epilepsy FoundationEpilepsy · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Galactosylceramide beta-galactosidase deficiency.
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