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Descriptor English: Leukodystrophy, Globoid Cell
Descriptor Spanish: Leucodistrofia de Células Globoides
Descriptor leucodistrofia de células globoides
Entry term(s) enfermedad de Krabbe
enfermedad por deficiencia de galactosilceramidasa
esclerosis difusa de cuerpos globoides
Scope note: Esfingolipidosis hereditaria autosómica recesiva causada por deficiencia en la GALACTOSILCERAMIDASA que produce acumulación de PSICOSINA en los LISOSOMAS del CEREBRO, NERVIOS PERIFÉRICOS, HÍGADO, RIÑÓN y LEUCOCITOS. En el sistema nervioso hay una prominente desmielinización central y periférica. La forma infantil se presenta a la edad de 4-6 meses con retraso psicomotor, ESPASTICIDAD MUSCULAR y espasmos tónicos inducidos por estímulos pequeños. La muerte se produce en los primeros dos años. Las formas de esta enfermedad que tienen un comienzo posterior se caracterizan por tener un curso menos fulminante. (Menkes, Textbook of Child Neurology, 5th ed, pp195-7)
Descriptor Portuguese: Leucodistrofia de Células Globoides
Descriptor French: Leucodystrophie à cellules globoïdes
Entry term(s): Cell Leukodystrophies, Globoid
Cell Leukodystrophy, Globoid
Cell Leukoencephalopathies, Globoid
Cell Leukoencephalopathy, Globoid
Classic Globoid Cell Leukodystrophy
Deficiencies, GALC
Deficiencies, Galactocerebrosidase
Deficiencies, Galactosylceramide beta-Galactosidase
Deficiency Disease, Galactosylceramidase
Deficiency Disease, Galactosylceramide-beta-Galactosidase
Deficiency Diseases, Galactosylceramidase
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Deficiency, GALC
Deficiency, Galactocerebrosidase
Deficiency, Galactosylceramide beta-Galactosidase
Diffuse Globoid Body Sclerosis
Disease, Galactosylceramidase Deficiency
Disease, Galactosylceramide-beta-Galactosidase Deficiency
Diseases, Galactosylceramidase Deficiency
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Early Onset Globoid Cell Leukodystrophy
Early-Onset Globoid Cell Leukodystrophy
GALC Deficiencies
GALC Deficiency
Galactocerebrosidase Deficiencies
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency Disease
Galactosylceramidase Deficiency Diseases
Galactosylceramide Lipidosis
Galactosylceramide beta Galactosidase Deficiency
Galactosylceramide beta Galactosidase Deficiency Disease
Galactosylceramide beta-Galactosidase Deficiencies
Galactosylceramide beta-Galactosidase Deficiency
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylceramide-beta-Galactosidase Deficiency Diseases
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
Globoid Body Sclerosis, Diffuse
Globoid Cell Leukodystrophies
Globoid Cell Leukodystrophy
Globoid Cell Leukoencephalopathies
Globoid Cell Leukoencephalopathy
Globoid Leukodystrophies
Globoid Leukodystrophy
Infantile Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe Leukodystrophy
Krabbe's Disease
Krabbe's Leukodystrophy
Krabbes Disease
Krabbes Leukodystrophy
Late Onset Globoid Cell Leukodystrophy
Late-Onset Globoid Cell Leukodystrophy
Leukodystrophies, Globoid
Leukodystrophies, Globoid Cell
Leukodystrophy, Globoid
Leukodystrophy, Globoid Cell, Classic
Leukodystrophy, Globoid Cell, Early-Onset
Leukodystrophy, Globoid Cell, Infantile
Leukodystrophy, Globoid Cell, Late-Onset
Leukodystrophy, Krabbe
Leukodystrophy, Krabbe's
Leukoencephalopathies, Globoid Cell
Leukoencephalopathy, Globoid Cell
Psychosine Lipidosis
beta-Galactosidase Deficiencies, Galactosylceramide
beta-Galactosidase Deficiency, Galactosylceramide
Tree number(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D007965
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 1974; see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for LEUKODYSTROPHIES see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for KRABBE DISEASE see KRABBE'S DISEASE 1974-1997
History Note: 1974(1963)
Related: Galactosylceramidase MeSH
DeCS ID: 8142
Unique ID: D007965
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1974/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Leukodystrophy, Globoid Cell - Preferred
Concept UI M0012415
Scope note 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.
Preferred term Leukodystrophy, Globoid Cell
Entry term(s) Cell Leukodystrophies, Globoid
Cell Leukodystrophy, Globoid
Cell Leukoencephalopathies, Globoid
Cell Leukoencephalopathy, Globoid
Deficiencies, GALC
Deficiencies, Galactocerebrosidase
Deficiencies, Galactosylceramide beta-Galactosidase
Deficiency Disease, Galactosylceramidase
Deficiency Disease, Galactosylceramide-beta-Galactosidase
Deficiency Diseases, Galactosylceramidase
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Deficiency, GALC
Deficiency, Galactocerebrosidase
Deficiency, Galactosylceramide beta-Galactosidase
Diffuse Globoid Body Sclerosis
Disease, Galactosylceramidase Deficiency
Disease, Galactosylceramide-beta-Galactosidase Deficiency
Diseases, Galactosylceramidase Deficiency
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
GALC Deficiencies
GALC Deficiency
Galactocerebrosidase Deficiencies
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency Disease
Galactosylceramidase Deficiency Diseases
Galactosylceramide Lipidosis
Galactosylceramide beta Galactosidase Deficiency
Galactosylceramide beta Galactosidase Deficiency Disease
Galactosylceramide beta-Galactosidase Deficiencies
Galactosylceramide beta-Galactosidase Deficiency
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylceramide-beta-Galactosidase Deficiency Diseases
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
Globoid Body Sclerosis, Diffuse
Globoid Cell Leukodystrophies
Globoid Cell Leukodystrophy
Globoid Cell Leukoencephalopathies
Globoid Cell Leukoencephalopathy
Globoid Leukodystrophies
Globoid Leukodystrophy
Krabbe Disease
Krabbe Leukodystrophy
Krabbe's Disease
Krabbe's Leukodystrophy
Krabbes Disease
Krabbes Leukodystrophy
Leukodystrophies, Globoid
Leukodystrophies, Globoid Cell
Leukodystrophy, Globoid
Leukodystrophy, Krabbe
Leukodystrophy, Krabbe's
Leukoencephalopathies, Globoid Cell
Leukoencephalopathy, Globoid Cell
Psychosine Lipidosis
beta-Galactosidase Deficiencies, Galactosylceramide
beta-Galactosidase Deficiency, Galactosylceramide
Early-Onset Globoid Cell Leukodystrophy - Narrower
Concept UI M0335502
Preferred term Early-Onset Globoid Cell Leukodystrophy
Entry term(s) Classic Globoid Cell Leukodystrophy
Early Onset Globoid Cell Leukodystrophy
Infantile Globoid Cell Leukodystrophy
Leukodystrophy, Globoid Cell, Classic
Leukodystrophy, Globoid Cell, Early-Onset
Leukodystrophy, Globoid Cell, Infantile
Late-Onset Globoid Cell Leukodystrophy - Narrower
Concept UI M0335507
Preferred term Late-Onset Globoid Cell Leukodystrophy
Entry term(s) Late Onset Globoid Cell Leukodystrophy
Leukodystrophy, Globoid Cell, Late-Onset



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