This is a preview. Log in through your library . Abstract Defects in the pyruvate dehydrogenase (PDH) complex result in severe neurological dysfunction, congenital lactic acidosis, growth retardation, ...

HEREDITARY spherocytosis with its associated congenital hemolytic anemia is generally easily recognized and satisfactorily treated with splenectomy. A rarer group of congenital hemolytic anemias, ...

Lung cancer, notorious for its high mortality rates, is a leading cause of cancer-related deaths globally, with metastasis being the primary contributor to poor patient outcomes. A critical factor in ...

Metabolic acidosis is defined as a low pH (<7.35) due to an excess of acid (H +)oradeficit of base (HCO 3-). This occurs when there is an increased production of fixed or nonvolatile acids with a ...

THE hemolytic anemia associated with erythrocyte pyruvate kinase deficiency is of variable severity 1–17 and probably of variable cause. In some cases severe aberrations of erythrocyte shape ...

Credit: Shutterstock. Mitapivat is a first-in-class, oral, selective small molecule allosteric activator of pyruvate kinase-R enzymes. The Food and Drug Administration (FDA) has accepted for Priority ...

What are inborn errors of metabolism? Inborn errors of metabolism are primarily associated with the improper digestion of food items and defects in the storage of carbohydrates, fatty acids, and ...

While some people are afraid to have sick children, Allison and Ben Gauvin have a different view. The Connecticut couple, who tragically lost two of their children to a rare mitochondrial disease, ...