| KRABBE DISEASE | |
| LEUKODYSTROPHY, GLOBOID CELL TYPE | |
|
245200
OMIM = Online Mendelian Inheritance of Men | |
|
487 | |
| Galactocerebrosidase | |
| 3.2.1.46 | |
| rare (1:100.000) autosomal recessive mutation in the galactosylceramidase gene (GALC) high frequency in Israel, 1:50000 in Sweden | |
| Laboratory findings | Protein, total inc (cerebrospinal fluid) Galactosylceramidase dec (fibroblasts) Galactosylceramidase dec (leucocytes) |
| Symptoms | Nerve conductive velocity, slow ataxia blindness, visual loss, visual impairment feeding difficulties, poor feeding fever hearing defect, deafness hypertonia, spasticity irritability leukodystrophy neurological deterioration neuropathy seizures AEP (auditory evoked potentials), abnormal [-] cerebral atrophy CT, brain, abnormalities [-] defect of deep tendon reflexes early death EMG abnormalities [-] failure to thrive hyperacusis mental retardation motor retardation MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] onset, infancy opisthotonus optic atrophy peripheral neuropathy progressive neurologic defect respiratory insufficiency SEP (sensory evoked potentials), abnormal VEP (visual evoked potentials), abnormal vomiting |