Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
mitochondrial complex I deficiency
Summary
- Synonym
-
- isolated NADH-CoQ reductase deficiency
- isolated NADH-coenzyme Q reductase deficiency
- isolated NADH-ubiquinone reductase deficiency
- isolated mitochondrial respiratory chain complex I deficiency
- Definition
- A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.
- Super Class
- mitochondrial metabolism disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28331 | NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9CXZ1 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial | |
| Q9Z0X1 | Apoptosis-inducing factor 1, mitochondrial |
