Krabbe Globoid Cell Leukodystrophy

Krabbe globoid cell leukodystrophy (also known as Krabbe disease) is a rare autosomal recessive disorder characterized by myelin degeneration in the central and peripheral nervous systems. It is a lysosomal storage disorder caused by a deficiency of the enzyme galactocerebrosidase. Clinical manifestations include progressive mental retardation, seizures, loss of vision, hearing and motor coordination. Mortality usually occurs between 2 and 5 years of age. Treatment is mainly symptomatic and supportive. Hematopoietic stem cell transplantation can slow the progression of the disease if performed in the early stages. Prenatal diagnosis and newborn screening can detect the disease before symptoms appear.

Krabbe GCDLD (GCDLD) is a rare genetic disease characterized by damage to the brain and adrenal cortex, caused by a mutation in the _UBE4B_ gene. The disease begins in infancy/early childhood and presents with neurological defects, seizures, and coma. An asymptomatic course of the disease also occurs. The causes of damage to the nervous system are unknown. Genetic analysis is required to identify mutations. Prevention - prenatal examination of healthy parents during examination of a pregnant woman and postpartum monitoring of the child. Timely administration of symptomatic treatment can reduce the number of attacks and improve the patient’s quality of life. Surgery