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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pyruvate kinase deficiency


Other Names for this Disease

  • PK deficiency
  • Pyruvate kinase deficiency of erythrocytes
  • Pyruvate kinase deficiency of red cells
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of pyruvate kinase deficiency?

The signs and symptoms of pyruvate kinase deficiency include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of th eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor).[1] 
Last updated: 7/18/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Intrauterine growth retardation 5%
Nonimmune hydrops fetalis 5%
Abnormality of the amniotic fluid -
Autosomal recessive inheritance -
Cholecystitis -
Cholelithiasis -
Chronic hemolytic anemia -
Increased red cell osmotic fragility -
Jaundice -
Reticulocytosis -
Splenomegaly -
Unconjugated hyperbilirubinemia -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Haldeman-Englert C. Pyruvate kinase deficiency. MedlinePlus Encyclopedia. January 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed 7/18/2011.


Other Names for this Disease
  • PK deficiency
  • Pyruvate kinase deficiency of erythrocytes
  • Pyruvate kinase deficiency of red cells
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.