Mitochondrial complex II deficiency information

Mitochondrial complex II deficiency, also called CII deficiency, is a rare mitochondrial disease. As of 2013, about thirty-six cases had been reported...

Mitochondrial complex III deficiency, nuclear type - OMIM". www.omim.org. Retrieved 2023-12-01. "Phenotypic Series - PS220110 - Mitochondrial complex...

and is present only in tumor cells. Mitochondrial complex II deficiency (MT-C2D), a disorder of the mitochondrial respiratory chain with heterogeneous...

complex (complex II). Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy and mitochondrial complex II deficiency....

Respiratory complex I, EC 7.1.1.2 (also known as NADH:ubiquinone oxidoreductase, Type I NADH dehydrogenase and mitochondrial complex I) is the first large...

(COX) deficiency Mitochondrial complex I deficiency Mitochondrial complex II deficiency Mitochondrial complex III deficiency (cytochrome b deficiency) mtDNA...

secondary iron deficiency anemia. Another speculation for the cause of anemia is involving the mitochondrial enzyme cytochrome c oxidase (complex IV in the...

have been associated with the mitochondrial Complex IV deficiency, a deficiency in an enzyme complex of the mitochondrial respiratory chain that catalyzes...

located on the inner mitochondrial membrane during the process of oxidative phosphorylation. Leakage of electrons at complex I and complex III from electron...

the mitochondrial matrix, with the exception of succinate dehydrogenase, which is bound to the inner mitochondrial membrane as part of Complex II. The...

of them can cause CoQ deficiency. CoQ10 levels also may be affected by other genetic defects (such as mutations of mitochondrial DNA, ETFDH, APTX, FXN...

Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized...

complex, as well as aggregation of mutant subunits with exposed hydrophobic patches. COX subunits are encoded in both the nuclear and mitochondrial genomes...

primarily facilitated by the mitochondrial trifunctional protein, an enzyme complex associated with the inner mitochondrial membrane, although very long...

for iron-deficiency anemia. Aggregated ferritin transforms into a toxic form of iron called hemosiderin. Ferritin is a globular protein complex consisting...

Seller KL, et al. (January 1997). "Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin". The Journal...

that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory...

NDUFS4 Mitochondrial complex I deficiency; 252010; NDUFV1 Mitochondrial complex I deficiency; 252010; NDUFV2 Mitochondrial complex II deficiency; 252011;...

severe encephalomyopathy, Leber hereditary optic neuropathy, mitochondrial complex IV deficiency, and recurrent myoglobinuria . The MT-CO3 gene produces a...

also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen...

"Rieske-associated protein." Defects in UQCRC2 are associated with mitochondrial complex III deficiency, nuclear, type 5. UQCRC2 is located on the p arm of chromosome...

results from a deficiency of thiamine in the diet. TPP works as a coenzyme in many enzymatic reactions, such as: Pyruvate dehydrogenase complex Pyruvate decarboxylase...

Mitochondrial optic neuropathies are a heterogenous group of disorders that present with visual disturbances resultant from mitochondrial dysfunction...

formulation for iron supplements indicated in prophylaxis and treatment of iron-deficiency anemia. Examples of iron preparation include ferrous sulfate, ferrous...

Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified...

the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaric...