Krabbe disease (globoid cell leukodystrophy)
Autoszomális recesszív
Deficiency of the enzyme galactocerebrosidase leads to loss of myelin in the brain and peripheral nerves, with irritability, stiffness and developmental regression in the infantile form and slower progression in later onset forms.
Mit változtat a diagnózis
Krabbe disease is included in some newborn screening programmes; stem cell transplantation can change the course when carried out before symptoms begin.
Vizsgált gének
Más néven
diffuse globoid body sclerosis; galactocerebrosidase deficiency; galactosylceramidase deficiency; galactosylceramide lipidosis; GALC deficiency; GALC enzyme deficiency; GLD; globoid cell leukodystrophy; globoid cell leukoencephalopathy; Krabbe leukodystrophy; Krabbe's leukodystrophy; later onset Krabbe disease
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- adult Krabbe disease
- infantile Krabbe disease
- late-infantile/juvenile Krabbe disease
