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Pyruvate kinase deficiency (PKD)

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 Pyruvate kinase deficiency (PKD). Pyruvate kinase deficiency (PKD) is an inherited disorder that affects the red blood cells' ability to produce energy, leading to hemolytic anemia. This condition occurs due to a mutation in the PKLR gene that codes for the pyruvate kinase enzyme, which is necessary for the final step of glycolysis, a process that produces energy from glucose. Fig- piruvate kinase deficiency  Sign & symptoms Fatigue Weakness Shortness of breath Pale skin Jaundice Enlarged spleen Test for PKD?  Pyruvate kinase (PK) deficiency is a rare genetic condition that affects the metabolism of red blood cells, leading to hemolytic anemia. The diagnosis of PK deficiency typically involves a combination of clinical evaluation, family history, and laboratory tests. Here are some of the tests that can be used to diagnose PK deficiency: 1. Complete Blood Count (CBC): A CBC test can help to identify anemia, which is a common symptom of PK deficiency. In PK deficiency, the red

G6pd deficiency (Glucose 6 phosphate dehydrogenase deficiency)

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G6PD Glucose-6-phosphate dehydrogenase (G6PD) lack is an acquired enzymatic problem that influences the red platelets. It happens when the body comes up short on satisfactory measure of the G6PD protein, which is fundamental for the ordinary capability of red platelets. This lack can prompt a condition called hemolytic iron deficiency, in which the red platelets are obliterated more rapidly than expected. It is a typical enzymatic problem, especially in populaces where jungle fever is pervasive. Genetic way for G6PD? G6PD (glucose-6-phosphate dehydrogenase) deficiency is a genetic disorder that affects the red blood cells. It is caused by mutations in the G6PD gene, which provides instructions for making the glucose-6-phosphate dehydrogenase enzyme. This enzyme plays a crucial role in protecting red blood cells from damage caused by certain chemicals and reactive oxygen species. G6PD deficiency is inherited in an X-linked recessive manner, which means that the mutated gene is located o