Farber Syndrome

Farber syndrome, also known as disseminated congenital lipogranulomatosis, is a rare inherited disorder that affects the body's metabolism of fat. This disease belongs to the group of lysosomal storage diseases that cause disturbances in the functioning of lysosomes, the organelles responsible for the processing and utilization of biologically active substances in cells.

Farber syndrome is caused by a malfunction of the enzyme ceramidase. This enzyme is responsible for the breakdown of ceramides, fatty molecules that are key components of cell membranes and the nervous system. As a result of disruption of the enzyme ceramidase, ceramides begin to accumulate in various tissues and organs, including the nervous system, bone marrow, liver, lungs, spleen and lymph nodes. This leads to characteristic symptoms of the disease, such as enlarged liver and spleen, nervous system disorders and joint changes.

Farber syndrome is hereditary and is transmitted in an autosomal recessive manner. This means that the disease only occurs if both parents passed on the defective gene to the child. In this case, the probability of having a child with Farber syndrome is 25%.

Farber syndrome is a rare disease and occurs with a frequency of 1 case per 100,000-300,000 newborns. There is currently no specific treatment for this disease. Symptomatic treatment is aimed at eliminating individual manifestations of the disease, such as joint pain, digestive and respiratory disorders, as well as maintaining the functions of the nervous system.

In conclusion, Farber syndrome is a rare hereditary disease that causes disruption of lysosomes and the accumulation of fat molecules in various tissues and organs of the body. Although there is currently no specific treatment for this disease, symptomatic treatment can improve the quality of life of patients and slow down the progression of the disease.

Farber syndrome

Farber's syndrome (lipogranulomatous pyogenic acidosis, familial lipogranulomatosis) is a rare, genetically determined hereditary disease characterized by benign tumors, metabolic disorders, and an increased susceptibility to infections. Congenital lipogranulumatosis is more often diagnosed in boys, with a peak incidence in childhood.

Characterized by a gene mutation