krabbe

Krabbe is a surname of Danish origin. The term is most widely encountered in medicine as Krabbe disease, a severe inherited nervous system disorder named after the Danish physician Knud Krabbe who first described it in the early 20th century. It is also known as globoid cell leukodystrophy (GLD).

Krabbe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme galactocerebrosidase (GALC). The resulting inability to metabolize certain galactolipids leads to progressive demyelination of the central and peripheral nervous system. Most affected individuals present in infancy with irritability, poor feeding, vomiting, fever, limb stiffness, and developmental delay. The disease is typically progressive and often fatal in early childhood, though later-onset forms exist and can follow a slower course.

Pathology includes the accumulation of psychosine and the presence of globoid cells in white matter. Diagnosis is by measuring GALC activity in blood or tissue, followed by genetic testing of the GALC gene and neuroimaging findings. Treatment is largely supportive; hematopoietic stem cell transplantation may improve outcomes when performed early in infantile-onset cases, and experimental therapies such as gene therapy and substrate reduction are under investigation. Newborn screening in some regions allows earlier detection and treatment considerations.

Beyond the disease, Krabbe generally refers to a Danish surname and is borne by various individuals in different fields.