Disease Information for Leukodystrophy, Krabbe

Synonyms:

beta galactocerebrosidase deficiency, BRAIN SCLEROSIS GLOBOID CELL, Deficiency Disease Galactosylceramidase, Deficiency Disease Galactosylceramide beta Galactosidase, Deficiency Diseases Galactosylceramidase, Deficiency Diseases Galactosylceramide beta Galactosidase, diffuse globoid body sclerosis, diffuse globoid cell cerebral sclerosis, Disease Galactosylceramidase Deficiency, Disease Galactosylceramide beta Galactosidase Deficiency, Diseases Galactosylceramidase Deficiency, Diseases Galactosylceramide beta Galactosidase Deficiency, galactocerebrosidase (GALC) deficiency, galactocerebrosidase deficiency, Galactocerebroside beta galactosidase deficiency, GALACTOSYL CERAMIDE LIPIDOSIS, Galactosylcer b galactosi def, GALACTOSYLCERAMIDASE DEFIC DIS, Galactosylceramidase Deficiency Disease, Galactosylceramidase Deficiency Diseases, GALACTOSYLCERAMIDE BETA GALACTOSIDASE DEFICIENCY, Galactosylceramide beta galactosidase deficiency (disorder), Galactosylceramide beta Galactosidase Deficiency Disease, Galactosylceramide beta Galactosidase Deficiency Diseases, galactosylceramide deficiency, galactosylceramide lipidosis, galactosylsphingosine lipidosis, GALC DEFICIENCY, GCL, GCL Globoid cell leucodystr, GCL Globoid cell leucodystrophy, GLD, globoid body sclerosis, Globoid Body Sclerosis Diffuse, globoid cell cerebral sclerosis, Globoid cell leucodystrophy, Globoid Cell Leukodystrophies, globoid cell leukodystrophy, globoid cell leukodystrophy (GCL GLD), GLOBOID CELL LEUKOENCEPHALOPATHY, globoid cell sclerosis, Globoid Leukodystrophies, Globoid leukodystrophy, Krabbe, KRABBE DIS, Krabbe disease, Krabbe disease (KD) 1, Krabbe disease 1, Krabbe leucodystrophy, Krabbe leukodystrophy, KRABBES DIS, Krabbes Disease, Krabbe's Disease, Krabbes Leukodystrophy, Krabbe's leukodystrophy, Leukodystrophies Globoid, Leukodystrophies Globoid Cell, Leukodystrophy Globoid, Leukodystrophy Globoid Cell, Leukodystrophy Krabbe, Leukodystrophy Krabbe's, psychosine lipidosis, sclerosis globoid body

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beta galactocerebrosidase deficiency, BRAIN SCLEROSIS GLOBOID CELL, Deficie... (more)

Definition:

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; 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 -[Jablonski/NIH Archives 2007]-----------

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