Leukodystrophy, Globoid Cell

**Definition:** An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

**Tree numbers:** - C10.228.140.163.100.362.500 - C10.228.140.163.100.435.825.590 - C10.228.140.695.625.500 - C10.314.400.500 - C16.320.565.189.362.500 - C16.320.565.189.435.825.590 - C16.320.565.398.641.803.585 - C16.320.565.595.554.825.590 - C18.452.132.100.362.500 - C18.452.132.100.435.825.590 - C18.452.584.563.641.803.585 - C18.452.648.189.362.500 - C18.452.648.189.435.825.590 - C18.452.648.398.641.803.585 - C18.452.648.595.554.825.590

**Synonyms:** - Globoid Cell Leukoencephalopathy - Galactocerebrosidase Deficiency - GALC Deficiency - Galactosylceramide beta-Galactosidase Deficiency - Galactosylceramide Lipidosis - Galactosylcerebrosidase Deficiency - Galactosylsphingosine Lipidosis - Psychosine Lipidosis - Krabbe's Disease - Krabbe Disease - Diffuse Globoid Body Sclerosis - Galactosylceramidase Deficiency Disease - Galactosylceramide-beta-Galactosidase Deficiency Disease - Globoid Body Sclerosis, Diffuse - Globoid Leukodystrophy - Krabbe Leukodystrophy - Globoid Cell Leukodystrophy - Krabbe's Leukodystrophy