19 apr 1987 anni - Krabbe disease globoid cell leukodystrophy

Descrizione:

hypertonia, irritability, delayed milestones
loss of developed milestones, fever, myoclonus
opisthotonus, nystagmus
It is caused by a deficiency of galactocerebroside ß-galactosidase, an enzyme that degrades cerebroside, a normal constituent of myelin. Cerebrosides accumulate in the lysosomes of macrophages within the white matter. This results in demyelination.
deficiency of the lysosomal enzyme galactocerebrosidase (GALC) which is a component in myelin metabolic turnover. This has been mapped to chromosome 14q
It is named after Knud Haraldsen Krabbe, a Danish neurologist (1885-1961)

Aggiunto al nastro di tempo:

Data: