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Congenital Lactic Acidosis
smpdb.ca/view/SMP0000546DiseaseCongenital 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, mitochondrialPyruvate 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, mitochondrialMetformin
go.drugbank.com/drugs/DB00331ApprovedInvestigationalMetformin is a biguanide antihyperglycemic agent and first-line pharmacotherapy used in the management of type II diabetes. Metformin is considered an antihyperglycemic drug because it lowers blood glucose concentrations in type II diabe...
Mixtures: Teva-sitagliptin Malate / Metformin, Teva-sitagliptin Malate / MetforminCategories: MATE substrates, MATE 1 SubstratesCitric 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, mitochondrialLysosomal alpha-glucosidase
go.drugbank.com/bio_entities/BE0000876TargetEnzymeHumansEssential for the degradation of glycogen in lysosomes (PubMed:14695532, PubMed:18429042, PubMed:1856189, PubMed:7717400). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (Pub...
Synonyms: Acid maltaseCongenital 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, mitochondrial