GTR Home > Conditions/Phenotypes > Galactosylceramide beta-galactosidase deficiency

Disease characteristics

Excerpted from the GeneReview: Krabbe Disease
Krabbe disease is characterized by infantile-onset progressive neurologic deterioration and death before age two years (85%-90% of individuals) or by onset between age one year and the fifth decade with slower disease progression (10%-15%). Children with the infantile form appear to be normal for the first few months of life but show extreme irritability, spasticity, and developmental delay before age six months; psychomotor regression progresses to a decerebrate state with no voluntary movement. The onset and progression in the late-onset forms can be quite variable. Individuals can be clinically normal until weakness, vision loss, and intellectual regression become evident. The onset of symptoms and clinical course can be variable even among siblings.

Associated genes

Clinical features

Help
  • EEG abnormalities
  • Hypertonia
  • Hearing impairment
  • Increased CSF protein
  • Hyperactive deep tendon reflexes
  • CNS demyelination
  • Progressive spasticity
  • Motor deterioration
  • Seizure
  • Hydrocephalus
  • Nystagmus
  • Failure to thrive
  • Vomiting
  • Blindness
  • Optic atrophy
  • Decreased nerve conduction velocity
  • Muscular hypotonia
  • Episodic fever
  • Autoimmune thrombocytopenia
  • Neurodegeneration
  • Developmental regression
  • Diffuse cerebral atrophy
  • Sensorimotor neuropathy
  • Abnormal flash visual evoked potentials
  • Peripheral demyelination
Show all (25)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk