A rare genetic disorder (also known as leukodystrophy) consisting of a deficiency of the enzyme beta-galactosidase, which causes the myelin sheath surrounding nerves in the brain to degenerate. The disorder is characterized by progressive intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy.
Krabbe disease is a rare, degenerative disorder of the central and peripheral nervous systems. It is one of a group of genetic disorders called the leukodystrophies. The disorder involves a genetic anomaly that interferes with the development of nerves in the brain, and particularly with the development of the myelin sheath that surrounds the nerve. It is identified by the presence of characteristic globoid cells in the brain tissue. Krabbe disease is inherited in an autosomal recessive pattern and occurs equally as often in boys and girls. The gene involved has been identified as 14q31. If more than one person in a family is diagnosed with Krabbe disease, they may not have the same form or express the same symptoms.
Globoid cell leukodystrophy due to the accumulation of galactocerebroside in the tissues, resulting from a deficiency of galactocerebrosidase. Clinically, affected infants develop seizures, deafness, blindness, cachexia, paralysis, and marked mental deficiency. Survival beyond 2 years is rare.
Krabbe’s disease is a rare genetic metabolic disorder that typically leads to early childhood fatality. It stems from a lack of the enzyme galactocerebrosidase, causing toxic chemicals to build up in the nervous system cells. Symptoms, such as seizures, vision loss, deafness, and muscle weakness, generally start to appear by nine months.