PK deficiency

ピルビン酸キナーゼ欠乏症

WordNet

1. the 16th letter of the Roman alphabet (同)p
2. a river in western Thailand; a major tributary of the Chao Phraya (同)Ping River

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. parking
3. phosphorusの化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/24 17:40:19」(JST)

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Pyruvate kinase deficiency
Classification and external resources
Phosphoenolpyruvate
ICD-10	D55.2
ICD-9	282.3
OMIM	266200
DiseasesDB	11090
MedlinePlus	001197
eMedicine	med/1980

Distribution of red blood cell abnormalities worldwide

Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells and causes them to deform into echinocytes ("burr cells") on peripheral blood smears.

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.

Causes

A variety of mutations can lead to lowered production, activity, or stability of pyruvate kinase, an enzyme essential to glycolysis. A total lack of this enzyme's activity will be lethal[citation needed].

Pathophysiology

Erythrocytes manufacture ATP through glycolysis. A deficiency in pyruvate kinase, the enzyme that potentiates the last step of glycolysis (phosphoenolpyruvate converted to pyruvate), results in red blood cells (RBCs) with decreased energy.

The events leading to hemolysis are still not well understood, but it seems that the lack of ATP impairs the Na+/K+-ATPase and other ATP-dependent processes, leading to a cellular loss of K+ and water and an intracellular accumulation of Na+. This cellular swelling is comparable to ischemic changes in which cells denied of O2 suffer from an ATP deficiency. This swelling causes rigidity of the RBC and eventually splenic hemolysis from an inability to distort through splenic sinusoids. Partial splenectomies are sometimes performed as a treatment for anemias due to an underlying inability for RBC deformation (hereditary spherocytosis and pyruvate kinase deficiency). This is usually reserved for severe transfusion-dependent anemias as removal of the spleen confers a susceptibility to encapsulated organisms.

The buildup of reaction intermediates can also increase the level of 2,3-bisphosphoglycerate (2,3 BPG) in the cells and affect tissue oxygenation. This will cause a "right shift" in the hemoglobin oxygen saturation curve, implying a decreased oxygen affinity for the hemoglobin and earlier oxygen unloading than under normal conditions. As a result, individuals with pyruvate kinase deficiency may have a greater capacity for physical activity than others with similarly low hemoglobin levels.

Symptoms

The lysis of the RBCs leads to hemolytic anemia in the newborn and may cause jaundice from increased bilirubin.

Treatment

Most affected individuals do not require treatment. Individuals who are most severely affected may die in utero of anemia or may require blood transfusions or splenectomy, but most of the symptomatology is limited to early life and times of physiologic stress or infection.

Treatment can include a blood transfusion or removal of the spleen. Treatment is usually effective in reducing the severity of the symptoms.

See also

• List of hematologic conditions

References

UpToDate Contents

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• 1. ピルビン酸キナーゼ欠損症 pyruvate kinase deficiency
• 2. 小児における溶血性貧血の概要 overview of hemolytic anemias in children
• 3. 新生児における同種免疫性溶血性疾患の出生後診断およびマネージメント postnatal diagnosis and management of alloimmune hemolytic disease of the newborn
• 4. 小児における皮膚蒼白の評価 evaluation of pallor in children
• 5. 成人における溶血性貧血の診断へのアプローチ approach to the diagnosis of hemolytic anemia in the adult

English Journal

• Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK.

• Juvet F, Giger U, Battersby I, Menaut P, Syme HM, Mooney CT.SourceUniversity College Dublin Veterinary Hospital, School of Veterinary Medicine, University College Dublin, Belfield, Dublin, Ireland. florencejuvet@hotmail.com.
• Irish veterinary journal.Ir Vet J.2013 Jul 10;66(1):12. doi: 10.1186/2046-0481-66-12.
• Erythrocyte pyruvate kinase (PK) deficiency is described for the first time in three apparently unrelated West Highland white terriers (WHWT) from Ireland and the UK. All three dogs were diagnosed with markedly regenerative but persistent anaemia and had been treated for presumed immune-mediated hae
• PMID 23842571

• A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.

• Vercellati C, Marcello AP, Fermo E, Barcellini W, Zanella A, Bianchi P.SourceHematology and Transplantation Unit, Pathophysiology ofAnemia, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
• Clinical laboratory.Clin Lab.2013;59(3-4):421-4.
• BACKGROUND: Hereditary spherocytosis (HS) and pyruvate kinase (PK) deficiency are the most common causes of congenital hemolytic anemia. We describe a case of HS with defective PK activity initially misdiagnosed as PK deficiency.METHODS: Hematologic investigation, SDS-PAGE analysis of red cell membr
• PMID 23724634

• AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.

• Cheng J, Morisaki H, Toyama K, Ikawa M, Okabe M, Morisaki T.SourceDepartment of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan.
• Genes to cells : devoted to molecular & cellular mechanisms.Genes Cells.2012 Nov;17(11):913-22. doi: 10.1111/gtc.12006. Epub 2012 Oct 18.
• AMP deaminase (AMPD) catalyzes AMP to IMP and plays an important role in energy charge and nucleotide metabolism. Human AMPD3 deficiency is a type of erythrocyte-specific enzyme deficiency found in individuals without clinical symptoms, although an increased level of ATP in erythrocytes has been rep
• PMID 23078545

Japanese Journal

• Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan

• Journal of Veterinary Medical Science 77(6), 743-746, 2015
• NAID 130005085863

• Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan

• Journal of Veterinary Medical Science advpub(0), 2015
• NAID 130004781100

• The Use of Population Pharmacokinetic and Pharmacodynamic Modeling and Simulation in Anti-Osteoporotic Drug Development: A Perspective

• 臨床薬理 45(5), 187-196, 2014
• NAID 130004700544

Related Links

• Cat PK Deficiency - UC Davis Veterinary Genetics Laboratory

Introduction Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency) is an inherited hemolytic anemia caused by insufficient activity of this regulatory enzyme which results in instability and loss of red blood cells. The anemia is ...

• PK Deficiency - Nile Abyssinians

PK Deficiency Q & A Following international collaboration, a set of questions on pyruvate kinase (PK) deficiency were compiled and co-ordinated by me, then put to Dr Urs Giger, who had earlier kindly agreed to answer them, for ...

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★リンクテーブル★

リンク元	「ピルビン酸キナーゼ欠乏症」
関連記事	「deficiency」「P」「PK」

「ピルビン酸キナーゼ欠乏症」

　　[★]

英

pyruvate kinase deficiency PK deficiency, PKD, deficiency of pyruvate kinase, deficiency of PK

同

ピルビン酸キナーゼ欠損症

関

ピルビン酸キナーゼ

• first aid step1 2006 p.89

遺伝

• 常染色体劣性遺伝

病態生理

• ピルビン酸キナーゼ pyruvate kinaseの著しい活性低下により赤血球内のATP産生が阻害される　→　ATP欠乏により赤血球の細胞膜よりカリウムが流出して溶血を来す。、

• 赤血球：ATP、ピルビン酸、NADの減少。2,3-DPGの増加

症状

• 黄疸、溶血性貧血

USMLE

• Q book p.140 39

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「P」

　　[★]

• プロリン proline
• P波 P wave
• リン phosphorus

　 　 　

「PK」

　　[★]

• ピルビン酸キナーゼ pyruvate kinase