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Leigh Syndrome
smpdb.ca/view/SMP0125770DiseaseLeigh Syndrome, also called Leigh Disease or infantile subacute necrotizing encephalopathy, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that is caused by a mutation of any one of 75 different genes. Disrup...
Enzymes: Malate dehydrogenase, cytoplasmicPrimary Hyperoxaluria II, PH2
smpdb.ca/view/SMP0125773DiseasePrimary hyperolaria type 2 (PH2) is a rare condition resulting from glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) enzyme deficiency. PH2 results in calcium oxalate (also known as oxalic acid) deposits and end-stage renal diseas...
Enzymes: Malate dehydrogenase, cytoplasmicLeigh Syndrome
smpdb.ca/view/SMP0000196DiseaseLeigh Syndrome, also called Leigh Disease or infantile subacute necrotizing encephalopathy, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that is caused by a mutation of any one of 75 different genes. Disrup...
Enzymes: Malate dehydrogenase, cytoplasmicPrimary Hyperoxaluria II, PH2
smpdb.ca/view/SMP0000558DiseasePrimary hyperolaria type 2 (PH2) is a rare condition resulting from glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) enzyme deficiency. PH2 results in calcium oxalate (also known as oxalic acid) deposits and end-stage renal diseas...
Enzymes: Malate dehydrogenase, cytoplasmicPyruvate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0000212DiseasePyruvate dehydrogenase complex deficiency results from a mutation in the E1-alpha polypeptide gene (PDHA1). PDHA1 encodes the pyruvate dehydrogenase complex (PDC) a critical complex that converts pyruvate from glycolysis to acetyl CoA fo...
Enzymes: Malate dehydrogenase, cytoplasmicPyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency)
smpdb.ca/view/SMP0000334DiseasePyruvate Decarboxylase E1 Component Deficiency is caused by a defect in the PDHA1 gene which codes for mitochondrial pyruvate dehydrogenase E1 component subunit alpha, somatic form. This is a homotetrameric enzyme that catalyses the deca...
Enzymes: Malate dehydrogenase, cytoplasmicFumarase Deficiency
smpdb.ca/view/SMP0000547DiseaseFumarase 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, mitochondrial2-Ketoglutarate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0000549Disease2-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/SMP0000550DiseaseDihydrolipoamide 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, mitochondrialCongenital 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, mitochondrial