Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features
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Krabbe disease
Lysosomal storage disease
Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder of myelination caused by galactocerebrosidase (GALC) deficiency. This enzyme is essential for the lysosomal degradation of several important galactolipids, including galactosylceramide and psychosine. Most human patients present before 6 months of age but older patients are also recognized. The diagnosis can be made by measuring very low GALC activity in any easily obtainable tissue. Newborn screening has been initiated in an attempt to identify individuals who may develop the disease before symptoms appear. Treatment is limited to hematopoietic stem cell transplantation in presymptomatic infants and mildly affected late-onset patients. The GALC gene has been cloned, and over 140 disease-causing mutations have been identified. GLD has also been identified in a number of animal species, which can be used to examine pathogenic mechanisms and potential methods for treatment including gene therapy, stem cell therapy, and small molecule therapy.
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Lysosomal storage disease
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A case of Krabbe's leukodystrophy is reported in a male child 18 months old, with evolution of 12 months. The clinical, radiological, pathological and genetic studies are described. Besides, this case was the basis to review the topic of leukodystrophy and the corresponding literature, considering that this is an uncommon disease in our milieu.
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