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  2. Pyruvate carboxylase deficiency - Wikipedia

    en.wikipedia.org/wiki/Pyruvate_carboxylase...

    Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. [2] High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.

  3. Pyruvate dehydrogenase deficiency - Wikipedia

    en.wikipedia.org/wiki/Pyruvate_dehydrogenase...

    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

  4. Pyruvic acid - Wikipedia

    en.wikipedia.org/wiki/Pyruvic_acid

    Pyruvic acid (CH 3 COCOOH) is the simplest of the alpha-keto acids, with a carboxylic acid and a ketone functional group. Pyruvate , the conjugate base , CH 3 COCOO − , is an intermediate in several metabolic pathways throughout the cell.

  5. Sitosterolemia - Wikipedia

    en.wikipedia.org/wiki/Sitosterolemia

    Statins have been used, and while these lower cholesterol levels and may ameliorate atherosclerotic disease, plant sterol levels are insufficiently lowered by their use alone. [citation needed] If dietary treatment alone is insufficient, bile acid-binding resins (e.g., cholestyramine, colestipol) could be considered.

  6. Pyruvate kinase deficiency - Wikipedia

    en.wikipedia.org/wiki/Pyruvate_kinase_deficiency

    The level of 2,3-bisphosphoglycerate is elevated: 1,3-bisphosphoglycerate, a precursor of phosphoenolpyruvate which is the substrate for Pyruvate kinase, is increased and so the Luebering-Rapoport pathway is overactivated. This led to a rightward shift in the oxygen dissociation curve of hemoglobin (i.e. it decreases the hemoglobin affinity for ...

  7. Glycogen storage disease type I - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    Chronic hypoglycemia produces secondary metabolic adaptations, including chronically low insulin levels and high levels of glucagon and cortisol. Lactic acidosis arises from impairment of gluconeogenesis. Lactic acid is generated both in the liver and muscle and is oxidized by NAD + to pyruvic acid and then converted via the gluconeogenic ...

  8. Ketone bodies - Wikipedia

    en.wikipedia.org/wiki/Ketone_bodies

    The resulting very high levels of ketone bodies lower the pH of the blood plasma, which reflexively triggers the kidneys to excrete urine with very high acid levels. The high levels of glucose and ketones in the blood also spill passively into the urine (due to the inability of the renal tubules to reabsorb glucose and ketones from the tubular ...

  9. Hypervitaminosis - Wikipedia

    en.wikipedia.org/wiki/Hypervitaminosis

    Hypervitaminosis is a condition of abnormally high storage levels of vitamins, which can lead to various symptoms as over excitement, irritability, or even toxicity. Specific medical names of the different conditions are derived from the given vitamin involved: an excess of vitamin A, for example, is called hypervitaminosis A.