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Krabbe disease (globoid cell leukodystrophy) is a rare autosomal recessive pathology related to lysosomal accumulation diseases. The basis of the disease are mutations in a gene, which encodes the synthesis of the galactocerebrosidase (GALC), which lead to its deficiency. The result is an accumulation with toxic properties predecessor galactocerebroside galactocerebroside (psychosine), which causes the breakdown of myelin with the formation of globoid cells. In 90% of cases, the disease manifests itself within the first six months of life with hyperexcitability, delay or regression of psychomotor development, spasticity of limbs, axial hypotension, lack of reflexes, optic nerve atrophy and microcephaly. In the future, join cramps, neurological status of the patient quickly worsens to decerebration and death before two years of age. Late forms of the disease are characterized by slower progression with much longer life expectancy. The diagnosis of Krabbe disease is facilitated by the results of brain neurovisualization, neurophysiological and histological studies. The final diagnosis is based on the detection of a decrease in GALC activity in blood leukocytes or cultured skin fibroblasts (below 5% of normal), as well as molecular genetic testing, detecting the desired mutation. Neonatal screening often gives a false positive result. Currently, the active search for available biomarkers of the disease for accurate and early diagnosis of the disease is continuing. There are no truly effective treatments for Krabbe disease. Stem cell transplantation is effective only in the asymptomatic stage of the disease, requires myelosuppressive therapy and is associated with the risk of complications. If you have symptoms of a possible supportive therapy, aimed at reducing the excitability and spasticity. Search of substances-activators of residual enzymatic activity GALC is conducted.

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