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Pyruvate Dehydrogenase Deficiency (E2)
smpdb.ca/view/SMP0000551DiseasePyruvate Dehydrogenase (PDH) Deficiency is an X linked disease where individuals have a reduced number of functioning PDH complexes ultimately affecting the mitochondria’s energy metabolism. In a healthy individual, PDH complex catalyzes...
Enzymes: Malate dehydrogenase, mitochondrialCitric Acid Cycle
smpdb.ca/view/SMP0000057MetabolicThe resulting fumarate is then hydrated by the enzyme known as fumarase to produce malate. The resulting malate is oxidized via NAD+ to produce oxaloacetate and NADH. … This oxidation reaction is performed by malate dehydrogenase. The resulting oxaloacetate can then combine with acetyl-CoA and the TCA reaction cycle begins again.
Enzymes: Malate dehydrogenase, mitochondrialMitochondrial Complex II Deficiency
smpdb.ca/view/SMP0000548DiseaseMitochondrial complex II deficiency, which is also known as CII deficiency, is a rare form of an inherited inborn error of metabolism (IEM). CII deficiency is an autosomal recessive disorder that arises from mutations in the succinate de...
Enzymes: Malate dehydrogenase, mitochondrialCongenital Lactic Acidosis
smpdb.ca/view/SMP0125752DiseaseCongenital lactic acidosis, also known as CLA, is an inherited inborn error of metabolism (IEM) characterized by the build-up of lactic acid in the body (lactic acidosis). The incidence of congenital lactic acidosis is unknown. One estim...
Enzymes: Malate dehydrogenase, mitochondrialFumarase Deficiency
smpdb.ca/view/SMP0125753DiseaseFumarase deficiency, also called fumaric aciduria, is a rare inborn error of metabolism (IEM) and autosomal recessive metabolic disorder caused by a defective mitochondrial fumarate hydratase. Fumarate hydratase catalyzes the conversion ...
Enzymes: Malate dehydrogenase, mitochondrialMitochondrial Complex II Deficiency
smpdb.ca/view/SMP0125754DiseaseMitochondrial complex II deficiency, which is also known as CII deficiency, is a rare form of an inherited inborn error of metabolism (IEM). CII deficiency is an autosomal recessive disorder that arises from mutations in the succinate de...
Enzymes: Malate dehydrogenase, mitochondrialPyruvate Dehydrogenase Deficiency (E2)
smpdb.ca/view/SMP0125757DiseasePyruvate Dehydrogenase (PDH) Deficiency is an X linked disease where individuals have a reduced number of functioning PDH complexes ultimately affecting the mitochondria’s energy metabolism. In a healthy individual, PDH complex catalyzes...
Enzymes: Malate dehydrogenase, mitochondrialThe Oncogenic Action of 2-Hydroxyglutarate
smpdb.ca/view/SMP0002291Disease2-Hydroxyglutarate is a compound formed from isocitric acid, a component of the TCA cycle. Isocitric acid becomes dehydrogenated by isocitrate dehydrogenase using NADP as a cofactor, and forming oxoglutaric acid. Oxoglutaric acid then fo...
Enzymes: Malate dehydrogenase, mitochondrial2-Ketoglutarate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0125755Disease2-Ketoglutarate dehydrogenase complex deficiency, also known as alpha-ketoglutarate dehydrogenase deficiency or oxoglutaric aciduria, is an autosomal recessive disorder of the Krebs cycle caused by a defective oxoglutarate dehydrogenase ...
Enzymes: Malate dehydrogenase, mitochondrialPyruvate Dehydrogenase Deficiency (E3)
smpdb.ca/view/SMP0125756DiseaseDihydrolipoamide dehydrogenase deficiency, which is also known as DLDD, DLD, E3 deficiency, pyruvate dehydrogenase E3 deficiency, DLD deficiency, E3-deficient maple syrup urine disease, is a rare inherited inborn error of metabolism. DLD...
Enzymes: Malate dehydrogenase, mitochondrial