Lysosomal Storage Diseases, Nervous System [lyzozomální střádavé nemoci v nervovém systému]

topical
13
Terms

lyzozomální nemoci z ukládání - nervový systém
lyzozomální střádavé nemoci nervového systému

 

Lysosomal Enzyme Disorders, Nervous System
Nervous System Lysosomal Enzyme Disorders
Nervous System Lysosomal Storage Diseases

Persistent link   https://www.medvik.cz/link/D020140
Definition

A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.

Annotation
general or unspecified; prefer specifics
DUI
D020140 MeSH Browser
CUI
M0328120
Previous indexing
Brain Diseases (1964-1999); Lysosomal Storage Diseases (1992-1999); Lysosomes (1964-1999); Sphingolipidoses (1974-1999)
History note
2000
Public note
2000

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 1
CO
complications 1
DI
diagnosis 8
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 3
EC
economics 0
EM
embryology 0
EN
enzymology 1
EP
epidemiology 1
EH
ethnology 0
ET
etiology 0
GE
genetics 3
HI
history 0
IM
immunology 0
ME
metabolism 1
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 1
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 3
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C10 Nervous System Diseases 1 877
C10.228 Central Nervous System Diseases 806
C10.228.140 Brain Diseases 1 177
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.084 Adrenoleukodystrophy 41
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C10.228.140.163.100.365 Homocystinuria 107
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.435.295 Fucosidosis 2
C10.228.140.163.100.435.340 Glycogen Storage Disease Type II 59
C10.228.140.163.100.435.590 Mucolipidoses 10
C10.228.140.163.100.435.810 Sialic Acid Storage Disease 3
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 285
C10.228.140.163.100.725 Pyruvate Carboxylase Deficiency Disease
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.968 Zellweger Syndrome 10
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.084 Adrenoleukodystrophy 41
C16.320.565.189.168 Cerebral Amyloid Angiopathy, Familial 1
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.565.189.365 Homocystinuria 107
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.435.295 Fucosidosis 2
C16.320.565.189.435.340 Glycogen Storage Disease Type II 59
C16.320.565.189.435.590 Mucolipidoses 10
C16.320.565.189.435.810 Sialic Acid Storage Disease 3
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 285
C16.320.565.189.725 Pyruvate Carboxylase Deficiency Disease
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.968 Zellweger Syndrome 10
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.100 Aspartylglucosaminuria
C16.320.565.595.201 Cholesterol Ester Storage Disease 13
C16.320.565.595.377 Cystinosis 16
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.595.554.295 Fucosidosis 2
C16.320.565.595.554.340 Glycogen Storage Disease Type II 59
C16.320.565.595.554.590 Mucolipidoses 10
C16.320.565.595.554.810 Sialic Acid Storage Disease 3
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.577 Mannosidase Deficiency Diseases 1
C16.320.565.595.600 Mucopolysaccharidoses 81
C16.320.565.595.800 Pycnodysostosis 2
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.084 Adrenoleukodystrophy 41
C18.452.132.100.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.132.100.365 Homocystinuria 107
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.435.295 Fucosidosis 2
C18.452.132.100.435.340 Glycogen Storage Disease Type II 59
C18.452.132.100.435.590 Mucolipidoses 10
C18.452.132.100.435.810 Sialic Acid Storage Disease 3
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 285
C18.452.132.100.725 Pyruvate Carboxylase Deficiency Disease
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.084 Adrenoleukodystrophy 41
C18.452.648.189.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.648.189.365 Homocystinuria 107
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.435.295 Fucosidosis 2
C18.452.648.189.435.340 Glycogen Storage Disease Type II 59
C18.452.648.189.435.590 Mucolipidoses 10
C18.452.648.189.435.810 Sialic Acid Storage Disease 3
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 285
C18.452.648.189.725 Pyruvate Carboxylase Deficiency Disease
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.968 Zellweger Syndrome 10
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.100 Aspartylglucosaminuria
C18.452.648.595.201 Cholesterol Ester Storage Disease 13
C18.452.648.595.377 Cystinosis 16
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.595.554.295 Fucosidosis 2
C18.452.648.595.554.340 Glycogen Storage Disease Type II 59
C18.452.648.595.554.590 Mucolipidoses 10
C18.452.648.595.554.810 Sialic Acid Storage Disease 3
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.577 Mannosidase Deficiency Diseases 1
C18.452.648.595.600 Mucopolysaccharidoses 81
C18.452.648.595.800 Pycnodysostosis 2

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