Disorders of pyruvate metabolism and gluconeogenesis Save
ICD-10 code: E74.4
Chapter: Endocrine, nutritional and metabolic diseases
Disorders of Pyruvate Metabolism and Gluconeogenesis
Pyruvate metabolism and gluconeogenesis are two essential processes in the human body that are responsible for the production of energy and glucose. Pyruvate metabolism is the process by which pyruvate, a molecule that is produced during glycolysis, is converted into acetyl-CoA, which is used in the citric acid cycle to produce ATP, the energy currency of the cell. Gluconeogenesis, on the other hand, is the process by which glucose is produced from non-carbohydrate sources, such as amino acids and fatty acids, in the liver and kidneys.
Disorders of pyruvate metabolism and gluconeogenesis can have severe consequences for human health. These disorders can be genetic or acquired, and they can affect various organs, including the liver, brain, and muscles.
Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase deficiency (PDD) is a genetic disorder that affects the pyruvate metabolism pathway. This disorder is caused by a deficiency in one of the enzymes that are involved in converting pyruvate into acetyl-CoA. PDD can lead to a build-up of pyruvate and lactate in the body, which can cause neurological problems, such as seizures, developmental delay, and intellectual disability.
Fructose-1,6-Bisphosphatase Deficiency
Fructose-1,6-bisphosphatase deficiency (FBPase) is a rare genetic disorder that affects the gluconeogenesis pathway. This disorder is caused by a deficiency in the enzyme fructose-1,6-bisphosphatase, which is essential for the conversion of fructose-1,6-bisphosphate into glucose-6-phosphate. FBPase can lead to hypoglycemia, lactic acidosis, and liver dysfunction.
Phosphoenolpyruvate Carboxykinase Deficiency
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is another rare genetic disorder that affects the gluconeogenesis pathway. This disorder is caused by a deficiency in the enzyme PEPCK, which is essential for the conversion of oxaloacetate into phosphoenolpyruvate. PEPCK can lead to hypoglycemia, lactic acidosis, and developmental delay.
Conclusion
Disorders of pyruvate metabolism and gluconeogenesis can have severe consequences for human health. These disorders can be genetic or acquired, and they can affect various organs, including the liver, brain, and muscles. Early diagnosis and