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Caucasians of northern and central European decent are more likely to have the 1529A mutations, individuals of southern European descent usually have the 1456T mutation,

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13y ago
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4mo ago

Pyruvate kinase deficiency is an inherited condition that typically affects individuals of Northern European descent. It can manifest at any age, but symptoms often become apparent during infancy or childhood. Close relatives of someone with the condition are at a higher risk of also carrying the genetic mutation.

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Pyruvate kinase deficiency (PKD) is part of a group of disorders called hereditary nonspherocytic hemolytic anemias.

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Q: Who is most likely to get pyruvate kinase deficiency?
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What most the Krebs cycle have that glycolysis doesnt require?

pyruvate


What ion deficiency is most likely to affect the rate of photosynthesis?

A deficiency in magnesium ions (Mg2+) is most likely to affect the rate of photosynthesis because magnesium is a key component of chlorophyll, which is essential for capturing light energy during photosynthesis. Without enough magnesium, plants may not be able to produce chlorophjsonth and photosynthesis can be negatively impacted.


Which of the following most likely would be an immediate result of growth factor binding to its receptor?

An immediate result of growth factor binding to its receptor would likely be the activation of intracellular signaling pathways. This could lead to various cellular responses such as changes in gene expression, cell proliferation, differentiation, or survival.


What organelle is most likely to be altered in oxidative phosphorylation disorders?

The mitochondria are the organelles most likely to be altered in oxidative phosphorylation disorders. These disorders often affect the electron transport chain within the mitochondria, leading to a decrease in ATP production and overall cellular energy deficiency.


What is the most common mineral deficiency in the elderly?

The most common mineral deficiency in the elderly is calcium deficiency, which can lead to osteoporosis and increased risk of fractures. It is important for elderly individuals to consume an adequate amount of calcium through diet or supplements to support bone health.

Related questions

Pyruvate kinase deficiency?

DefinitionPyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia).Causes, incidence, and risk factorsPyruvate kinase deficiency is passed down as an autosomal recessive trait. A child must receive the non-working gene from both parents to develop the disorder.There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. Pyruvate kinase deficiency is the second most common cause, after G-6-PD deficiency.Pyruvate kinase deficiency is found in people of all ethnic backgrounds. However, certain populations, such as the Amish, are somewhat more likely to develop the condition.SymptomsAnemiaA yellowing of the whites of the eyes (icterus)Fatigue, lethargyJaundicePale skin (pallor)Signs and testsDuring a physical exam, the doctor will look for an enlarged spleen.Tests include the following:Bilirubin in the bloodCBCGenetic testing for mutation in the pyruvate kinase geneLarge red blood cells (macrocytosis)Levels of haptoglobin in the bloodOsmotic fragilityPyruvate kinaseactivityStool urobilinogenTreatmentPeople with severe anemia may need blood transfusions. Removing the spleen (splenectomy) may help reduce the destruction of red blood cells. However, this does not help in all cases. In newborns with dangerous levels of jaundice, the health care provider may recommend an exchange transfusion.Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.Expectations (prognosis)The outcome varies. Some people have few or no symptoms. Others have severe symptoms. Treatment can usually make symptoms less severe.ComplicationsGallstones are a common problem. They are made of too much bilirubin, which is produced during hemolytic anemia. Severe pneumococcal disease is a possible complication after splenectomy.Calling your health care providerSee your health care provider if:You have jaundice (this is a symptom of many severe illnesses)You have a family history of this disorder and are planning to have childrenPreventionGenetic counseling can help prospective parents with a family history of pyruvate kinase deficiency. People who carry the gene can often be diagnosed by finding decreased RBC pyruvate kinase activity in their red blood cells.ReferencesSegel GB. Enzymatic defects. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 463.


What is the most likely reason for the development of a vitamin B12 deficiency?

The most likely reason for the development of a B12 deficiency is a dietary deficiency. The development can also come from gastritis or even malabsorption of food.


What is most likely to occur from a prolonged dietary deficiency of vitamin A?

Night blindness is the first symptom.


What is most likely to occur from prolonged dietary deficiency of vitamin a?

Night blindness is the first symptom.


What is the most likely effect of a deficiency of aldosterone?

dehydration, low blood volume, low blood pressure.


What is a child diagnosed with iron deficiency anemia most likely benefiting from increasing the consumption of?

red meat


What three carbon compound is the most common end product of glycolysis?

Pyruvate is the most common end product of glycolysis.


What is the most likely explanation for the fatty liver that develops from protein deficiency?

inabllity of the liver to synthesize lipoproteins for fat export


What causes heaviness in the pelvic and legs?

If you are talking about weight, it is most likely consumption of too many calories and saturated fats in a day. If you mean they feel lethargic, it is most likely a Vitamin D or B deficiency.


What most the Krebs cycle have that glycolysis doesnt require?

pyruvate


Why kinase is different from enzyme and make examples of kinase?

Kinase is a special kind of enzyme.Protein Kinases are key regulators of cell function that constitute one of the largest and most functionally diverse gene families. By adding phosphate groups to substrate proteins, they direct the activity, localization and overall function of many proteins, and serve to orchestrate the activity of almost all cellular processes. Kinase family include many members.


What ion deficiency is most likely to affect the rate of photosynthesis?

A deficiency in magnesium ions (Mg2+) is most likely to affect the rate of photosynthesis because magnesium is a key component of chlorophyll, which is essential for capturing light energy during photosynthesis. Without enough magnesium, plants may not be able to produce chlorophjsonth and photosynthesis can be negatively impacted.