Leukodystrophy, Globoid Cell [globoidní leukodystrofie]

topical
17
Terms

galaktocerebrosidová lipidóza
galaktocerebrosidóza
globoid cell leukodystrofie
globoidní leukodystrofie s pozdním nástupem
globoidní leukodystrofie, infantilní typ
Krabbeho choroba
Krabbeho nemoc s pozdním nástupem
Krabbeho nemoc, infantilní typ
Krabbeova choroba s pozdním nástupem
Krabbeova choroba, infantilní typ
Krabbeova nemoc
leukodystrofie globoidní
leukodystrofie s globoidními buňkami

 

Classic Globoid Cell Leukodystrophy
Diffuse Globoid Body Sclerosis
Early-Onset Globoid Cell Leukodystrophy
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency Disease
Galactosylceramide beta-Galactosidase Deficiency
Galactosylceramide Lipidosis
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylcerebrosidase Deficiency
Galactosylsphingosine Lipidosis
GALC Deficiency
Globoid Body Sclerosis, Diffuse
Globoid Cell Leukodystrophy
Globoid Cell Leukoencephalopathy
Globoid Leukodystrophy
Infantile Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe Leukodystrophy
Krabbe's Disease
Krabbe's Leukodystrophy
Late-Onset Globoid Cell Leukodystrophy
Leukodystrophy, Globoid Cell, Classic
Leukodystrophy, Globoid Cell, Early-Onset
Leukodystrophy, Globoid Cell, Infantile
Leukodystrophy, Globoid Cell, Late-Onset
Psychosine Lipidosis

Persistent link   https://www.medvik.cz/link/D007965
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.

DUI
D007965 MeSH Browser
CUI
M0012415
History note
1974(1963)
Public 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

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 3
CO
complications
DI
diagnosis 10
DG
diagnostic imaging 1
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology 2
EP
epidemiology
EH
ethnology
ET
etiology 2
GE
genetics 2
HI
history
IM
immunology
ME
metabolism 1
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 5
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 897
C10.228 Central Nervous System Diseases 811
C10.228.140 Brain Diseases 1 186
C10.228.140.163 Brain Diseases, Metabolic 85
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 28
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 12
C10.228.140.163.100.362.250 Adrenoleukodystrophy 43
C10.228.140.163.100.362.312 Alexander Disease 6
C10.228.140.163.100.362.375 Canavan Disease 9
C10.228.140.163.100.362.500 Leukodystrophy, Globoid Cell 17
C10.228.140.163.100.362.550 Leukodystrophy, Metachromatic 30
C10.228.140.163.100.362.775 Pelizaeus-Merzbacher Disease 11
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 14
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.200 Fabry Disease 192
C10.228.140.163.100.435.825.250 Farber Lipogranulomatosis 5
C10.228.140.163.100.435.825.300 Gangliosidoses 11
C10.228.140.163.100.435.825.400 Gaucher Disease 86
C10.228.140.163.100.435.825.590 Leukodystrophy, Globoid Cell 17
C10.228.140.163.100.435.825.700 Niemann-Pick Diseases 36
C10.228.140.163.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C10.228.140.163.100.435.825.850 Sulfatidosis 1
C10.228.140.695 Leukoencephalopathies 12
C10.228.140.695.625 Hereditary Central Nervous System Demyelinating Diseases 12
C10.228.140.695.625.250 Adrenoleukodystrophy 43
C10.228.140.695.625.312 Alexander Disease 6
C10.228.140.695.625.375 Canavan Disease 9
C10.228.140.695.625.500 Leukodystrophy, Globoid Cell 17
C10.228.140.695.625.550 Leukodystrophy, Metachromatic 30
C10.228.140.695.625.775 Pelizaeus-Merzbacher Disease 11
C10.314 Demyelinating Diseases 308
C10.314.400 Hereditary Central Nervous System Demyelinating Diseases 12
C10.314.400.250 Adrenoleukodystrophy 43
C10.314.400.312 Alexander Disease 6
C10.314.400.375 Canavan Disease 9
C10.314.400.500 Leukodystrophy, Globoid Cell 17
C10.314.400.550 Leukodystrophy, Metachromatic 30
C10.314.400.775 Pelizaeus-Merzbacher Disease 11
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 219
C16.320.565 Metabolism, Inborn Errors 715
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 12
C16.320.565.189.362.250 Adrenoleukodystrophy 43
C16.320.565.189.362.312 Alexander Disease 6
C16.320.565.189.362.375 Canavan Disease 9
C16.320.565.189.362.500 Leukodystrophy, Globoid Cell 17
C16.320.565.189.362.550 Leukodystrophy, Metachromatic 30
C16.320.565.189.362.775 Pelizaeus-Merzbacher Disease 11
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.200 Fabry Disease 192
C16.320.565.189.435.825.250 Farber Lipogranulomatosis 5
C16.320.565.189.435.825.300 Gangliosidoses 11
C16.320.565.189.435.825.400 Gaucher Disease 86
C16.320.565.189.435.825.590 Leukodystrophy, Globoid Cell 17
C16.320.565.189.435.825.700 Niemann-Pick Diseases 36
C16.320.565.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.189.435.825.850 Sulfatidosis 1
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.300 Fabry Disease 192
C16.320.565.398.641.803.325 Farber Lipogranulomatosis 5
C16.320.565.398.641.803.350 Gangliosidoses 11
C16.320.565.398.641.803.441 Gaucher Disease 86
C16.320.565.398.641.803.585 Leukodystrophy, Globoid Cell 17
C16.320.565.398.641.803.730 Niemann-Pick Diseases 36
C16.320.565.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C16.320.565.398.641.803.925 Sulfatidosis 1
C16.320.565.595 Lysosomal Storage Diseases 74
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 14
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.200 Fabry Disease 192
C16.320.565.595.554.825.250 Farber Lipogranulomatosis 5
C16.320.565.595.554.825.300 Gangliosidoses 11
C16.320.565.595.554.825.400 Gaucher Disease 86
C16.320.565.595.554.825.590 Leukodystrophy, Globoid Cell 17
C16.320.565.595.554.825.700 Niemann-Pick Diseases 36
C16.320.565.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C16.320.565.595.554.825.850 Sulfatidosis 1
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 205
C18.452.132 Brain Diseases, Metabolic 85
C18.452.132.100 Brain Diseases, Metabolic, Inborn 28
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 12
C18.452.132.100.362.250 Adrenoleukodystrophy 43
C18.452.132.100.362.312 Alexander Disease 6
C18.452.132.100.362.375 Canavan Disease 9
C18.452.132.100.362.500 Leukodystrophy, Globoid Cell 17
C18.452.132.100.362.550 Leukodystrophy, Metachromatic 30
C18.452.132.100.362.775 Pelizaeus-Merzbacher Disease 11
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.200 Fabry Disease 192
C18.452.132.100.435.825.250 Farber Lipogranulomatosis 5
C18.452.132.100.435.825.300 Gangliosidoses 11
C18.452.132.100.435.825.400 Gaucher Disease 86
C18.452.132.100.435.825.590 Leukodystrophy, Globoid Cell 17
C18.452.132.100.435.825.700 Niemann-Pick Diseases 36
C18.452.132.100.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.132.100.435.825.850 Sulfatidosis 1
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.300 Fabry Disease 192
C18.452.584.563.641.803.325 Farber Lipogranulomatosis 5
C18.452.584.563.641.803.350 Gangliosidoses 11
C18.452.584.563.641.803.441 Gaucher Disease 86
C18.452.584.563.641.803.585 Leukodystrophy, Globoid Cell 17
C18.452.584.563.641.803.730 Niemann-Pick Diseases 36
C18.452.584.563.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.584.563.641.803.925 Sulfatidosis 1
C18.452.648 Metabolism, Inborn Errors 715
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 12
C18.452.648.189.362.250 Adrenoleukodystrophy 43
C18.452.648.189.362.312 Alexander Disease 6
C18.452.648.189.362.375 Canavan Disease 9
C18.452.648.189.362.500 Leukodystrophy, Globoid Cell 17
C18.452.648.189.362.550 Leukodystrophy, Metachromatic 30
C18.452.648.189.362.775 Pelizaeus-Merzbacher Disease 11
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.200 Fabry Disease 192
C18.452.648.189.435.825.250 Farber Lipogranulomatosis 5
C18.452.648.189.435.825.300 Gangliosidoses 11
C18.452.648.189.435.825.400 Gaucher Disease 86
C18.452.648.189.435.825.590 Leukodystrophy, Globoid Cell 17
C18.452.648.189.435.825.700 Niemann-Pick Diseases 36
C18.452.648.189.435.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.189.435.825.850 Sulfatidosis 1
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.300 Fabry Disease 192
C18.452.648.398.641.803.325 Farber Lipogranulomatosis 5
C18.452.648.398.641.803.350 Gangliosidoses 11
C18.452.648.398.641.803.441 Gaucher Disease 86
C18.452.648.398.641.803.585 Leukodystrophy, Globoid Cell 17
C18.452.648.398.641.803.730 Niemann-Pick Diseases 36
C18.452.648.398.641.803.850 Sea-Blue Histiocyte Syndrome 4
C18.452.648.398.641.803.925 Sulfatidosis 1
C18.452.648.595 Lysosomal Storage Diseases 74
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 14
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.200 Fabry Disease 192
C18.452.648.595.554.825.250 Farber Lipogranulomatosis 5
C18.452.648.595.554.825.300 Gangliosidoses 11
C18.452.648.595.554.825.400 Gaucher Disease 86
C18.452.648.595.554.825.590 Leukodystrophy, Globoid Cell 17
C18.452.648.595.554.825.700 Niemann-Pick Diseases 36
C18.452.648.595.554.825.775 Sea-Blue Histiocyte Syndrome 4
C18.452.648.595.554.825.850 Sulfatidosis 1

Krabbe Disease, Atypical, due to Saposin A Deficiency Disease MeSH Browser

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