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Start free with EleplanInfantile Krabbe disease
ORPHA:206436Clinical subtype
Also called Krabbe disease, classic form · Krabbe disease, early-onset
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Prevalence
- 1-9 / 1 000 000 (annual incidence, United States)
- Age of onset
- Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
13- Abnormal enzyme/coenzyme activity
- Abnormality of visual evoked potentials
- Functional motor deficit
- Hyperpyrexia
- Inappropriate crying
- Increased CSF protein concentration
- Irritability
- Mental deterioration
- Progressive neurologic deterioration
- Reduced galactocerebrosidase activity
- Sensorimotor neuropathy
- Spasticity
- Unexplained fevers
Common30–79%
13- Abnormal periventricular white matter morphology
- Axial hypotonia
- Decreased nerve conduction velocity
- Elevated brain choline level by MRS
- Failure to thrive
- Feeding difficulties
- Hand clenching
- Lower limb spasticity
- Peripheral neuropathy
- Prolonged brainstem auditory evoked potentials
- Psychomotor deterioration
- Reduced brain glutamate level by MRS
- Reduced brain N-acetyl aspartate level by MRS
Sometimes5–29%
39- Abnormal heart rate variability
- Ankle clonus
- Blindness
- Cachexia
- Decerebrate rigidity
- Decorticate rigidity
- Decreased head circumference
- Diffuse cerebral atrophy
and 31 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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