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Pyruvate 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.
SymptomsSigns and testsDuring a physical exam, the doctor will look for an enlarged spleen.
Tests include the following:
- Bilirubin in the blood
- CBC
- Genetic testing for mutation in the pyruvate kinase gene
- Large red blood cells (macrocytosis)
- Levels of haptoglobin in the blood
- Osmotic fragility
- Pyruvate kinaseactivity
- Stool urobilinogen
People 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 children
Genetic 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 else can I help you with?
How does pyruvate kinase deficiency affect the body?
PKD is caused by a deficiency in the enzyme, pyruvate kinase.
What is pyruvate kinase?
Pyruvate kinase deficiency (PKD) is part of a group of disorders called hereditary nonspherocytic hemolytic anemias.
Who is most likely to get pyruvate kinase deficiency?
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.
The enzyme pyruvate kinase is responsible for catalyzing the conversion of phosphoenolpyruvate into?
pyruvate
Which enzyme(s) bypass the pyruvate kinase reaction of glycolysis in gluconeogenesis?
pyruvate carboxylase and phosphoenolpyruvate carboxykinase (PEPCK)
How is PKD measured?
A diagnosis of PKD can be made by measuring the amount of pyruvate kinase in red blood cells.
What enzymes in the glycolysis pathway in the liver catalyze irreversible reactions?
Glucokinase, phosphofructokinase-1, pyruvate kinase
What enzyme is responsible for aerobic respiration?
There are very many enzymes involved. A few from glycolysis are: hexokinase and glucokinase, phosphohexose isomerase, phosphofructokinase, pyruvate kinase; from pyruvate decarboxylation are pyruvate dehydrogenase phosphatase and pyruvate dehydrogenase kinase; and a few from the Kreb's cycle are: aconitase, alpha-ketoglutamate dehydrogenase, succinate thiokinase, and fumarase.
What has the author Philip Dykshoorn written?
Philip Dykshoorn has written: 'Identification of an upstream activating sequence of the yeast pyruvate kinase gene (PYK)'
What is used in glycolysis?
this is shamefully vague question. In glycolysis, glucose and (hexokinase, phosphogluco-mutase, aldolase, triose-phosphate isomerase, glyceraldehyde-phosphate dehydrogenase, phosphoglycerate-kinase, phosphoglycerate mutase, enolase and pyruvate kinase) enzymes are used.
What type of reaction is phosphoenolpyruvate ADP to Pyruvate ATP?
This reaction is a phosphorylation reaction where phosphoenolpyruvate transfers a phosphate group to ADP to form pyruvate and ATP. It is catalyzed by the enzyme pyruvate kinase, an important step in glycolysis for ATP production.
Can you do a keto diet if you have had a heart attack?
lamentably, there is a caveat to this weight loss plan. you need to take excessive precaution if you have the following: diabetes pancreatitis liver failure lipid metabolism primary carnitine deficiency carnitine palmitoyltransferase deficiency carnitine translocase deficiency porphyrias pyruvate kinase deficiency the ketogenic food plan isn't always useful for these sufferers. when you have diabetes, ensure you ask your gp for correct medication adjustments. you should ask a qualified doctor earlier than beginning any healthy eating plan.
