| Pyruvate kinase deficiency | |
|---|---|
| Other names | Erythrocyte pyruvate kinase deficiency[1] |
 | |
| Phosphoenolpyruvate | |
| Specialty | Hematology  |
| Symptoms | Anemia, tachycardia[2] |
| Causes | Mutation in PKLR gene[3] |
| Diagnostic method | Physical exam, CBC[4] |
| Treatment | Blood transfusion[4] |
Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells.[4][5] Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive. Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia, following G6PD deficiency.[6]
- ^ Online Mendelian Inheritance in Man (OMIM): 266200
- ^ Cite error: The named reference
:3was invoked but never defined (see the help page). - ^ Cite error: The named reference
homwas invoked but never defined (see the help page). - ^ a b c "Pyruvate kinase deficiency: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2015-11-11.
- ^ "Pyruvate kinase deficiency | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2015-09-05. Retrieved 2015-11-11.
- ^ Gallagher, Patrick G.; Glader, Bertil (2016-05-01). "Diagnosis of Pyruvate Kinase Deficiency". Pediatric Blood & Cancer. 63 (5): 771–772. doi:10.1002/pbc.25922. ISSN 1545-5017. PMID 26836632. S2CID 42964783.