globoid cell leukodystrophy การใช้

• An inherited genetic problem that exists in the breed is globoid cell leukodystrophy.
• Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy.
• Globoid cell leukodystrophy ( Krabbe disease ) is a severe, autosomal recessive disorder that results from deficiency of galactocerebrosidase ( GALC ) activity.
• White matter degeneration is associated with and makes differential diagnoses out of other adult onset leukodystrophies such as metachromatic leukodystrophy ( MLD ), Krabbe disease ( globoid cell leukodystrophy ), and X-linked adrenoleukodystrophy ( X-ADL ).
• "' Krabbe disease "'( also known as "'globoid cell leukodystrophy "'or "'galactosylceramide lipidosis "') is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system.
• For three types of leukodystrophies ( X-linked adrenoleukodystrophy ( X-ALD ), metachromatic leukodystrophy ( MLD ) and Krabbe Disease ( globoid cell leukodystrophy-GLD ), gene therapy using autologous hematopoietic stem cells to transfer the disease gene with lentiviral vectors have shown to be successful and are currently being used in clinical trials for X-ALD and MLD . The progression of X-ALD has shown to be disrupted with hematopoietic stem cell gene therapy but the exact reason why demyelination stops and the amount of stem cells needed is unclear.