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Pyruvate kinase deficiency of red cells

MedGen UID:
473069
Concept ID:
C0340968
Disease or Syndrome
Synonyms: PK deficiency; Pyruvate kinase deficiency; PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency of erythrocytes; Pyruvate kinase deficiency, Amish type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: PK - Pyruvate kinase deficiency (124331002); Pyruvate kinase deficiency (124331002); Deficiency of phosphoenolpyruvate kinase (124331002); Deficiency of phosphoenol transphosphorylase (124331002); Deficiency of pyruvate kinase (124331002)
 
Gene (location): PKLR (1q22)
OMIM®: 266200
Orphanet: ORPHA766

Definition

Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005). [from OMIM]

Additional description

From GHR
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia.Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this disorder.In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive. The symptoms of this disorder may get worse during an infection or pregnancy.  https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Clinical features

Cholelithiasis
MedGen UID:
3039
Concept ID:
C0008350
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Abnormality of the amniotic fluid
MedGen UID:
488828
Concept ID:
C0266781
Finding
Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.
Unconjugated hyperbilirubinemia
MedGen UID:
82786
Concept ID:
C0268306
Disease or Syndrome
Abnormally high level of unconjugated bilirubin in the blood.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), and congenital disorder of glycosylation type Ia (212065).
Intrauterine growth retardation
MedGen UID:
473406
Concept ID:
C1386048
Pathologic Function
Chronic hemolytic anemia
MedGen UID:
237230
Concept ID:
C1387532
Disease or Syndrome
An chronic form of hemolytic anemia.
Increased red cell osmotic fragility
MedGen UID:
376594
Concept ID:
C1849478
Finding
Cholecystitis
MedGen UID:
368404
Concept ID:
C1963083
Finding
The presence of inflammatory changes in the gallbladder.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyruvate kinase deficiency of red cells

Recent clinical studies

Etiology

Bobée V, Daliphard S, Schrapp A, Lahary A
Int J Lab Hematol 2018 Dec;40(6):697-703. Epub 2018 Sep 5 doi: 10.1111/ijlh.12906. PMID: 30184319
Upadhye D, Das RS, Ray J, Acharjee S, Ghosh K, Colah RB, Mukherjee MB
Hemoglobin 2018 Jan;42(1):43-46. Epub 2018 Feb 8 doi: 10.1080/03630269.2018.1428619. PMID: 29417859
van Straaten S, Bierings M, Bianchi P, Akiyoshi K, Kanno H, Serra IB, Chen J, Huang X, van Beers E, Ekwattanakit S, Güngör T, Kors WA, Smiers F, Raymakers R, Yanez L, Sevilla J, van Solinge W, Segovia JC, van Wijk R
Haematologica 2018 Feb;103(2):e82-e86. Epub 2017 Dec 14 doi: 10.3324/haematol.2017.177857. PMID: 29242305Free PMC Article
Montllor L, Mañú-Pereira MD, Llaudet-Planas E, Gómez Ramírez P, Sevilla Navarro J, Vives-Corrons JL
Med Clin (Barc) 2017 Jan 6;148(1):23-27. Epub 2016 Nov 19 doi: 10.1016/j.medcli.2016.10.004. PMID: 27871768

Diagnosis

Salek MS, Ionova T, Johns JR, Oliva EN
Qual Life Res 2019 Feb;28(2):399-410. Epub 2018 Nov 19 doi: 10.1007/s11136-018-2025-y. PMID: 30456713Free PMC Article
Vignon G, Jeanneau R, Labrousse J, Aubrit S, Mottaz P, Carrère F, Augereau PF, Aucher P, Lellouche F
Ann Biol Clin (Paris) 2018 Oct 1;76(5):493-503. doi: 10.1684/abc.2018.1381. PMID: 30226192
Bobée V, Daliphard S, Schrapp A, Lahary A
Int J Lab Hematol 2018 Dec;40(6):697-703. Epub 2018 Sep 5 doi: 10.1111/ijlh.12906. PMID: 30184319
Shefer Averbuch N, Steinberg-Shemer O, Dgany O, Krasnov T, Noy-Lotan S, Yacobovich J, Kuperman AA, Kattamis A, Ben Barak A, Roth-Jelinek B, Chubar E, Shabad E, Dufort G, Ellis M, Wolach O, Pazgal I, Abu Quider A, Miskin H, Tamary H
Eur J Haematol 2018 Sep;101(3):297-304. Epub 2018 Jun 25 doi: 10.1111/ejh.13097. PMID: 29786897
He Y, Luo J, Lei Y, Jia S, Liao N
Pediatr Transplant 2018 Mar;22(2) Epub 2018 Jan 18 doi: 10.1111/petr.13143. PMID: 29349879

Therapy

Salek MS, Ionova T, Johns JR, Oliva EN
Qual Life Res 2019 Feb;28(2):399-410. Epub 2018 Nov 19 doi: 10.1007/s11136-018-2025-y. PMID: 30456713Free PMC Article
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284
van Straaten S, Bierings M, Bianchi P, Akiyoshi K, Kanno H, Serra IB, Chen J, Huang X, van Beers E, Ekwattanakit S, Güngör T, Kors WA, Smiers F, Raymakers R, Yanez L, Sevilla J, van Solinge W, Segovia JC, van Wijk R
Haematologica 2018 Feb;103(2):e82-e86. Epub 2017 Dec 14 doi: 10.3324/haematol.2017.177857. PMID: 29242305Free PMC Article
Zahid MF, Bains APS
Blood 2017 Dec 28;130(26):2906. doi: 10.1182/blood-2017-08-803841. PMID: 29284613
Kung C, Hixon J, Kosinski PA, Cianchetta G, Histen G, Chen Y, Hill C, Gross S, Si Y, Johnson K, DeLaBarre B, Luo Z, Gu Z, Yao G, Tang H, Fang C, Xu Y, Lv X, Biller S, Su SM, Yang H, Popovici-Muller J, Salituro F, Silverman L, Dang L
Blood 2017 Sep 14;130(11):1347-1356. Epub 2017 Jul 31 doi: 10.1182/blood-2016-11-753525. PMID: 28760888Free PMC Article

Prognosis

van Straaten S, Bierings M, Bianchi P, Akiyoshi K, Kanno H, Serra IB, Chen J, Huang X, van Beers E, Ekwattanakit S, Güngör T, Kors WA, Smiers F, Raymakers R, Yanez L, Sevilla J, van Solinge W, Segovia JC, van Wijk R
Haematologica 2018 Feb;103(2):e82-e86. Epub 2017 Dec 14 doi: 10.3324/haematol.2017.177857. PMID: 29242305Free PMC Article
Zahid MF, Bains APS
Blood 2017 Dec 28;130(26):2906. doi: 10.1182/blood-2017-08-803841. PMID: 29284613
Li H, Gu P, Yao RE, Wang J, Fu Q, Wang J
Fetal Pediatr Pathol 2014 Jun;33(3):182-90. Epub 2014 Mar 6 doi: 10.3109/15513815.2014.890260. PMID: 24601847

Clinical prediction guides

Salek MS, Ionova T, Johns JR, Oliva EN
Qual Life Res 2019 Feb;28(2):399-410. Epub 2018 Nov 19 doi: 10.1007/s11136-018-2025-y. PMID: 30456713Free PMC Article
Montllor L, Mañú-Pereira MD, Llaudet-Planas E, Gómez Ramírez P, Sevilla Navarro J, Vives-Corrons JL
Med Clin (Barc) 2017 Jan 6;148(1):23-27. Epub 2016 Nov 19 doi: 10.1016/j.medcli.2016.10.004. PMID: 27871768
Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B
Am J Hematol 2015 Sep;90(9):825-30. Epub 2015 Aug 14 doi: 10.1002/ajh.24088. PMID: 26087744Free PMC Article
Li H, Gu P, Yao RE, Wang J, Fu Q, Wang J
Fetal Pediatr Pathol 2014 Jun;33(3):182-90. Epub 2014 Mar 6 doi: 10.3109/15513815.2014.890260. PMID: 24601847

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