mnohočetný deficit acyl-CoA dehydrogenáz [Multiple Acyl Coenzyme A Dehydrogenase Deficiency]

tematický
2
Termíny

acyl-CoA-dehydrogenasa - mnohočetná deficience
acyl-CoA-dehydrogenasa - mnohočetný deficit
glutarová acidurie II. typu
glutarová acidurie IIA
glutarová acidurie IIB
glutarová acidurie IIC
glutarová acidurie typu II
mnohočetný deficit acyl-CoA dehydrogenázy

 

Electron Transfer Flavoprotein Alpha Subunit Deficiency
Electron Transfer Flavoprotein Beta Subunit Deficiency
Electron Transfer Flavoprotein Deficiency
Electron Transfer Flavoprotein Dehydrogenase Deficiency
ETFA Deficiency
ETFB Deficiency
ETFDH Deficiency
Ethylmalonic-Adipic Aciduria
Ethylmalonic-Adipicaciduria
Glutaric Acidemia Type II
Glutaric Acidemia, Type 2
Glutaric Aciduria II
Glutaric Aciduria IIA
Glutaric Aciduria IIB
Glutaric Aciduria IIC
Glutaric Aciduria Type 2
Glutaric Aciduria Type II
Glutaric Aciduria, Type 2
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
Multiple Acyl-CoA Dehydrogenase Deficiency
Multiple FAD Dehydrogenase Deficiency

Perzistentní odkaz   https://www.medvik.cz/link/D054069
Definice

Autozomálně recesivní porucha oxidace mastných kyselin a katabolismu aminokyselin s rozvětveným řetězcem, lysinu a cholinu. Nemoc je způsobená poškozením podjednotky flavoproteinu přenášejícího elektrony nebo jeho dehydrogenázou (EC 1.5.5.1).

An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).

DUI
D054069 MeSH Prohlížeč
CUI
M0500981
Historická pozn.
2008
Veřejná pozn.
2008

C Nemoci
C16.320.565.100.102 albinismus 17
C16.320.565.100.187 alkaptonurie 76
C16.320.565.100.477 neketotická hyperglycinemie 7
C16.320.565.100.480 hyperhomocysteinemie 212
C16.320.565.100.544 hyperlysinemie
C16.320.565.100.766 fenylketonurie 285
C16.320.565.100.794 nedostatek prolidázy
C16.320.565.100.823 propionová acidemie 3
C16.320.565.100.880 tyrosinemie 18
C18.452 metabolické nemoci 1 196
C18.452.648.100.102 albinismus 17
C18.452.648.100.187 alkaptonurie 76
C18.452.648.100.477 neketotická hyperglycinemie 7
C18.452.648.100.480 hyperhomocysteinemie 212
C18.452.648.100.544 hyperlysinemie
C18.452.648.100.766 fenylketonurie 285
C18.452.648.100.823 propionová acidemie 3
C18.452.648.100.880 tyrosinemie 18
C18.452.660.300 Friedreichova ataxie 54
C18.452.660.520 Leighova nemoc 26
C18.452.660.560 mitochondriální myopatie 40

Glutaric aciduria 2 Disease MeSH Prohlížeč