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

tematický
13
Termíny

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

Perzistentní odkaz   https://www.medvik.cz/link/D020140
Definice

Skupina enzymatických poruch ovlivňujících nervový systém a do určité míry také kosterní systém, lymforetikulární systém a další orgány. Onemocnění se projevuje abnormální akumulací katabolitů uvnitř lysosomů.

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.

Anotace
general or unspecified; prefer specifics
DUI
D020140 MeSH Prohlížeč
CUI
M0328120
Předchozí užití
Brain Diseases (1964-1999); Lysosomal Storage Diseases (1992-1999); Lysosomes (1964-1999); Sphingolipidoses (1974-1999)
Historická pozn.
2000
Veřejná pozn.
2000

C Nemoci
C10.228.140 nemoci mozku 1 177
C10.228.140.163 metabolické nemoci mozku 84
C10.228.140.163.100.084 adrenoleukodystrofie 41
C10.228.140.163.100.320 galaktosemie 44
C10.228.140.163.100.355 Hartnupova nemoc 2
C10.228.140.163.100.360 hepatolentikulární degenerace 243
C10.228.140.163.100.362 dědičné demyelinizační nemoci CNS 11
C10.228.140.163.100.365 homocystinurie 107
C10.228.140.163.100.375 neketotická hyperglycinemie 7
C10.228.140.163.100.380 hyperlysinemie
C10.228.140.163.100.412 Leighova nemoc 26
C10.228.140.163.100.425 Leschův-Nyhanův syndrom 20
C10.228.140.163.100.435.295 fukosidóza 2
C10.228.140.163.100.435.340 glykogenóza typu II 59
C10.228.140.163.100.435.590 mukolipidózy 10
C10.228.140.163.100.435.810 nemoc z ukládání kyseliny sialové 3
C10.228.140.163.100.435.825 sfingolipidózy 12
C10.228.140.163.100.520 nemoc s močí javorového sirupu 8
C10.228.140.163.100.535 syndrom MELAS 17
C10.228.140.163.100.540 Menkesova choroba 12
C10.228.140.163.100.545 syndrom MERRF 4
C10.228.140.163.100.593 nedostatek mevalonátkinázy 16
C10.228.140.163.100.640 okulocerebrorenální syndrom 9
C10.228.140.163.100.687 fenylketonurie 285
C10.228.140.163.100.725 nedostatek pyruvátkarboxylázy
C10.228.140.163.100.813 Refsumova nemoc 6
C10.228.140.163.100.844 Refsumova nemoc infantilní
C10.228.140.163.100.875 tyrosinemie 18
C10.228.140.163.100.937 vrozené poruchy cyklu močoviny 7
C10.228.140.163.100.968 Zellwegerův syndrom 10
C16.320.565.189.084 adrenoleukodystrofie 41
C16.320.565.189.320 galaktosemie 44
C16.320.565.189.355 Hartnupova nemoc 2
C16.320.565.189.360 hepatolentikulární degenerace 243
C16.320.565.189.365 homocystinurie 107
C16.320.565.189.375 neketotická hyperglycinemie 7
C16.320.565.189.380 hyperlysinemie
C16.320.565.189.412 Leighova nemoc 26
C16.320.565.189.425 Leschův-Nyhanův syndrom 20
C16.320.565.189.435.295 fukosidóza 2
C16.320.565.189.435.340 glykogenóza typu II 59
C16.320.565.189.435.590 mukolipidózy 10
C16.320.565.189.435.810 nemoc z ukládání kyseliny sialové 3
C16.320.565.189.435.825 sfingolipidózy 12
C16.320.565.189.535 syndrom MELAS 17
C16.320.565.189.540 Menkesova choroba 12
C16.320.565.189.545 syndrom MERRF 4
C16.320.565.189.593 nedostatek mevalonátkinázy 16
C16.320.565.189.640 okulocerebrorenální syndrom 9
C16.320.565.189.687 fenylketonurie 285
C16.320.565.189.813 Refsumova nemoc 6
C16.320.565.189.844 Refsumova nemoc infantilní
C16.320.565.189.875 tyrosinemie 18
C16.320.565.189.968 Zellwegerův syndrom 10
C16.320.565.595.100 aspartylglukosaminurie
C16.320.565.595.377 cystinóza 16
C16.320.565.595.554.295 fukosidóza 2
C16.320.565.595.554.340 glykogenóza typu II 59
C16.320.565.595.554.590 mukolipidózy 10
C16.320.565.595.554.810 nemoc z ukládání kyseliny sialové 3
C16.320.565.595.554.825 sfingolipidózy 12
C16.320.565.595.600 mukopolysacharidózy 81
C16.320.565.595.800 pyknodysostóza 2
C18.452 metabolické nemoci 1 196
C18.452.132.100.084 adrenoleukodystrofie 41
C18.452.132.100.320 galaktosemie 44
C18.452.132.100.355 Hartnupova nemoc 2
C18.452.132.100.360 hepatolentikulární degenerace 243
C18.452.132.100.365 homocystinurie 107
C18.452.132.100.375 neketotická hyperglycinemie 7
C18.452.132.100.380 hyperlysinemie
C18.452.132.100.412 Leighova nemoc 26
C18.452.132.100.425 Leschův-Nyhanův syndrom 20
C18.452.132.100.435.295 fukosidóza 2
C18.452.132.100.435.340 glykogenóza typu II 59
C18.452.132.100.435.590 mukolipidózy 10
C18.452.132.100.435.810 nemoc z ukládání kyseliny sialové 3
C18.452.132.100.435.825 sfingolipidózy 12
C18.452.132.100.535 syndrom MELAS 17
C18.452.132.100.540 Menkesova choroba 12
C18.452.132.100.545 syndrom MERRF 4
C18.452.132.100.593 nedostatek mevalonátkinázy 16
C18.452.132.100.640 okulocerebrorenální syndrom 9
C18.452.132.100.687 fenylketonurie 285
C18.452.132.100.813 Refsumova nemoc 6
C18.452.132.100.844 Refsumova nemoc infantilní
C18.452.132.100.875 tyrosinemie 18
C18.452.132.100.968 Zellwegerův syndrom 10
C18.452.648.189.084 adrenoleukodystrofie 41
C18.452.648.189.320 galaktosemie 44
C18.452.648.189.355 Hartnupova nemoc 2
C18.452.648.189.360 hepatolentikulární degenerace 243
C18.452.648.189.365 homocystinurie 107
C18.452.648.189.375 neketotická hyperglycinemie 7
C18.452.648.189.380 hyperlysinemie
C18.452.648.189.412 Leighova nemoc 26
C18.452.648.189.425 Leschův-Nyhanův syndrom 20
C18.452.648.189.435.295 fukosidóza 2
C18.452.648.189.435.340 glykogenóza typu II 59
C18.452.648.189.435.590 mukolipidózy 10
C18.452.648.189.435.810 nemoc z ukládání kyseliny sialové 3
C18.452.648.189.435.825 sfingolipidózy 12
C18.452.648.189.535 syndrom MELAS 17
C18.452.648.189.540 Menkesova choroba 12
C18.452.648.189.545 syndrom MERRF 4
C18.452.648.189.593 nedostatek mevalonátkinázy 16
C18.452.648.189.640 okulocerebrorenální syndrom 9
C18.452.648.189.687 fenylketonurie 285
C18.452.648.189.813 Refsumova nemoc 6
C18.452.648.189.844 Refsumova nemoc infantilní
C18.452.648.189.875 tyrosinemie 18
C18.452.648.189.968 Zellwegerův syndrom 10
C18.452.648.595.100 aspartylglukosaminurie
C18.452.648.595.377 cystinóza 16
C18.452.648.595.554.295 fukosidóza 2
C18.452.648.595.554.340 glykogenóza typu II 59
C18.452.648.595.554.590 mukolipidózy 10
C18.452.648.595.554.810 nemoc z ukládání kyseliny sialové 3
C18.452.648.595.554.825 sfingolipidózy 12
C18.452.648.595.600 mukopolysacharidózy 81
C18.452.648.595.800 pyknodysostóza 2