Living with Infantile Krabbe disease
An inherited nervous system disease starting in the first months of life that damages the covering of nerve fibers.
Understanding Infantile Krabbe disease
It is a leukodystrophy, a group of disorders that affect the myelin sheath (the fatty covering of nerve fibers). It is a lysosomal storage disease caused by a lack of the enzyme GALC. The infantile form is the most common type, and onset is almost always before 6 months of age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain (failure to thrive)
- Feeding difficulties
- Movement problems
- Clenched hands
- Changes in the brain's white matter
- Slowed brainstem hearing responses
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
The disease is caused by a deficiency of the enzyme galactocerebrosidase (GALC), needed for myelin. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: early onset krabbe disease; early symptomatic krabbe disease; early-onset krabbe disease; familial infantile diffuse brain sclerosis; galactocerebroside beta-galactosidase deficiency - early onset; globoid cell leukodystrophy, early onset
Patient organizations
- Krabbe ConnectInfantile Krabbe disease · United States
- Epilepsy FoundationEpilepsy · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile Krabbe disease.
Explore research for Infantile Krabbe disease
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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