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While the mouse liver almost exclusively expresses PEPCK-C, humans equally present a mitochondrial isozyme (PEPCK-M). PEPCK-M has gluconeogenic potential per se. [2] Therefore, the role of PEPCK-C and PEPCK-M in gluconeogenesis may be more complex and involve more factors than was previously believed.
Coenzyme Q cytochrome c reductase deficiency, Deficiency in enzymes of fat oxidation, Fructose intolerance, Galactosemia, Glycogen debranching deficiency, Hypoketonemic hypoglycemia, Ketotic hypoglycemia of infancy, Mcquarrie type infantile idiopathic hypoglycemia, Organic acidemia, Phosphoenolpyruvate carboxykinase (PEPCK) deficiency, Urea ...
Phosphofructokinase deficiency; Other names: Glycogen storage disease type VII or Tarui's disease [1] [2] A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease. [3] The symmetry of the enzyme is a result of its tetrameric structure. Specialty: Endocrinology ...
Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. [ 4 ] [ 5 ] Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive .
Citrin deficiency has four primary phenotypes that are age dependent. These include neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) that affects infants, the adaptation or silent period, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adolescent and adult citrin deficiency (AACD) (formerly termed CTLN2), which represents the most severe form of ...
A deficiency occurs if a person doesn't get enough vitamin D from sunlight or food, or if their body can't synthesize or absorb vitamin D properly due to an underlying condition or medication.
Symptoms Definition/Explanation Lactic Acidosis High levels of lactate in the blood; can cause nausea, vomiting, breathing problems, abnormal heartbeats *In less severe cases, signs of lactic acidosis can include ataxia and episodes may only occur when ill, under stress, or after consuming high amounts of carbohydrates. Hyperammonemia
Phosphoenolpyruvate carboxykinase 2, mitochondrial (PCK2, PEPCK-M), is an isozyme of phosphoenolpyruvate carboxykinase (PCK, PEPCK) that in humans is encoded by the PCK2 gene on chromosome 14. This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP) in the presence of guanosine ...