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  • A degenerative disease of the central and peripheral nervous system caused by abnormal breakdown and turnover of myelin and marked by reduced galacosylceramide beta-galactosidase activity (EC 3.2.1.46). Two types based on the age of onset are recognized: Infantile-onset Krabbe disease is marked by the appearance of symptoms at ages 3-6 months, which include irritability, frequent crying, and increase of muscle tonus. They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity. Most infants die during the second year of life. Late-onset Krabbe disease (LOKD) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration. Some patients survive into adulthood.
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