Phosphoglycerate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase, which affects the survival of red blood cells, causing anemia.Cause:Pyruvate kinase deficiency is due to a mutation in the PKLR gene. There are four pyruvate kinase isoenzymes, two of which are encoded by the PKLR.Mutations in the PKLR gene, therefore, cause a deficiency in the pyruvate kinase e  Read More

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder in which the body is unable to convert specific fats to energy, particularly when fasting (fasting).Low blood sugar (hypoglycemia), tiredness (lethargy), and muscle weakness are major symptoms of VLCAD deficiency in infancy and early childhood.Individuals who are affected are also at risk of major consequences, including liver problems  Read More