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Mitochondrial Complex II Deficiency
smpdb.ca/view/SMP0000548DiseaseSDHA gene mutations cause myoclonic seizures and Leigh’s syndrome, a severe neurological disorder that is characterized by progressive loss of mental and movement abilities (psychomotor regression) and … Damage to the myelin sheath slows down or blocks messages between the brain and the rest of the body, which leads to problems with movement, speech, vision, hearing, and mental and physical development
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialCongenital Lactic Acidosis
smpdb.ca/view/SMP0000546DiseaseDefects in the citric acid cycle due to PDC deficiency deprives the body of energy and leads to an abnormal build-up of lactic acid in tissues and biofluids. … As the disease progresses, it can cause developmental delays, cognitive disabilities, abnormal development of the face and head, and organ failure.
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialPyruvate Dehydrogenase Deficiency (E2)
smpdb.ca/view/SMP0000551DiseaseHowever, this does not reverse neurological structural damage already present and therefore does little to influence the end results. … Other symptoms range from fatal lactic acidosis in the newborns, chronic neurodegenerative conditions, brain lesions, cerebral atrophy and much more.
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialPyruvate Dehydrogenase Deficiency (E2)
smpdb.ca/view/SMP0125757DiseaseHowever, this does not reverse neurological structural damage already present and therefore does little to influence the end results. … Other symptoms range from fatal lactic acidosis in the newborns, chronic neurodegenerative conditions, brain lesions, cerebral atrophy and much more.
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialCongenital Lactic Acidosis
smpdb.ca/view/SMP0125752DiseaseDefects in the citric acid cycle due to PDC deficiency deprives the body of energy and leads to an abnormal build-up of lactic acid in tissues and biofluids. … As the disease progresses, it can cause developmental delays, cognitive disabilities, abnormal development of the face and head, and organ failure.
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialFumarase Deficiency
smpdb.ca/view/SMP0125753DiseaseSymptoms of the disorder include microcephaly (i.e. small head), severe developmental delay, hypotonia (i.e. weak muscle), and etc. … Fumarase 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.
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialMitochondrial Complex II Deficiency
smpdb.ca/view/SMP0125754DiseaseSDHA gene mutations cause myoclonic seizures and Leigh’s syndrome, a severe neurological disorder that is characterized by progressive loss of mental and movement abilities (psychomotor regression) and … Damage to the myelin sheath slows down or blocks messages between the brain and the rest of the body, which leads to problems with movement, speech, vision, hearing, and mental and physical development
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial2-Ketoglutarate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0125755DiseaseSymptoms of the disorder include opisthotonus, ataxia, developmental delay, and seizures. … 2-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
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialPyruvate Dehydrogenase Deficiency (E3)
smpdb.ca/view/SMP0125756DiseaseThe DLD homodimer functions as the E3 component of the pyruvate, alpha-ketoglutarate, and branched-chain amino acid-dehydrogenase complexes and the glycine cleavage system, all of which are located in … Neurological problems are also common in this condition; the first symptoms in affected infants are often decreased muscle tone (hypotonia) and extreme tiredness (lethargy).
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialThe Oncogenic Action of 2-Hydroxyglutarate
smpdb.ca/view/SMP0002291DiseaseThis in turn changes which genes are normally expressed, as methylation is used to suppress genes, and can lead to the expression of oncogenes or the repression of tumor-suppressing genes. … This is the effect responsible for 2-hydroxyglutarate in cancer and other diseases.
Enzymes: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial