GALC Gene Sequencing

Imported from GeneReviews

Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.

Imported from Human Phenotype Ontology (HPO)

• Decerebrate rigidity
• Hydrocephalus
• Hypertonia
• Hypotonia
• Neurodegeneration
• Nystagmus
• Optic atrophy
• Seizure
• Vomiting
• EEG abnormality
• Autoimmune thrombocytopenia
• CNS demyelination
• Blindness
• Diffuse cerebral atrophy
• Peripheral demyelination
• Sensorimotor neuropathy
• Hearing impairment
• Developmental regression
• Hyperactive deep tendon reflexes
• Axial hypotonia
• Decreased nerve conduction velocity
• Progressive spasticity
• Motor deterioration
• Failure to thrive
• Recurrent fever
• Abnormal flash visual evoked potentials
• Reduced galactocerebrosidase activity