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 blood cells are fragile and have a shorter lifespan, leading to anemia.

2. Reticulocyte Count: A reticulocyte count is a blood test that measures the number of young red blood cells in circulation. In PK deficiency, the bone marrow tries to compensate for the destruction of red blood cells by producing more reticulocytes.

3. Hemoglobin Electrophoresis: This test can be used to differentiate PK deficiency from other types of hemolytic anemia, such as sickle cell anemia. Hemoglobin electrophoresis separates different types of hemoglobin based on their electrical charge.

4. Enzyme Activity Assay: This is the definitive test for PK deficiency. It measures the activity of the PK enzyme in red blood cells. A low level of PK activity is indicative of PK deficiency.

5. Genetic Testing: Genetic testing can be used to confirm the diagnosis of PK deficiency and to identify the specific mutation that is responsible for the condition.

It's important to note that the diagnosis of PK deficiency can be challenging, as some individuals with the condition may have mild or asymptomatic disease. If you are concerned about PK deficiency, it's best to speak with a healthcare professional who can provide further guidance and testing.

Treatment. 

Pyruvate kinase lack (PKD) is an interesting hereditary problem that influences red platelets' capacity to deliver sufficient pyruvate kinase catalyst, prompting hemolytic iron deficiency. The treatment of PKD expects to deal with the side effects, forestall difficulties, and work on personal satisfaction for impacted people.

1. Side effect the board: Blood bondings might be important to address serious frailty. Folic corrosive supplementation animates red platelet creation. Iron chelation treatment might be expected assuming that iron over-burden happens because of continuous bondings.

2. Strong consideration: Standard observing of blood counts and iron levels is fundamental. Patients ought to keep a sound way of life with a decent eating routine, hydration, and ordinary activity. Immunizations, especially against diseases like pneumococcus and flu, are suggested.

3. Splenectomy: now and again, eliminating the spleen can be considered to lessen hemolysis. Be that as it may, the choice relies upon the seriousness of side effects and the singular's general wellbeing.

4. Quality treatment: Trial approaches like quality treatment hold guarantee for treating PKD. This includes bringing practical pyruvate kinase qualities into the patient's phones to reestablish protein creation. While still in beginning phases of improvement, quality treatment might offer an expected fix from here on out.

5. Support gatherings and guiding: Associating with others confronting comparative difficulties can offer close to home help and data sharing. Hereditary guiding is fundamental for impacted people and their families to comprehend the legacy example and settle on informed choices with respect to family arranging.

Treatment for PKD requires a multidisciplinary approach including hematologists, geneticists, and steady medical services experts. As examination propels, novel treatments might arise, offering further choices.