About: Pyruvate kinase deficiency

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Pyruvate kinase deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.org associated with source document(s)
QRcode icon

http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FPyruvate_kinase_deficiency

Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. 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.

Attributes	Values
rdf:type	Thing Disease yago:WikicatBloodDisorders yago:Abstraction100002137 yago:Act100030358 yago:Anemia114195315 yago:Attribute100024264 yago:BloodDisease114189204 yago:BloodDyscrasia114053850 yago:Condition113920835 yago:Disease114070360 yago:Dyscrasia114053717 yago:Event100029378 yago:HemolyticAnemia114165240 yago:IllHealth114052046 yago:Illness114061805 yago:Mistake100070965 yago:Nonaccomplishment100066216 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatHereditaryHemolyticAnemias yago:WikicatInbornErrorsOfCarbohydrateMetabolism yago:WikicatInbornErrorsOfMetabolism yago:YagoPermanentlyLocatedEntity disease yago:State100024720
rdfs:label	نقص البيروفات كايناز (ar) Pyruvatkinasemangel (de) Déficit en pyruvate kinase (fr) Deficit di piruvato chinasi (it) Pyruvate kinase deficiency (en) Niedobór kinazy pirogronianowej (pl)
rdfs:comment	نقص البيروفات كايناز: هو اضطراب وراثي أيضي في الإنزيم بيروفات كايناز مما يؤثر في استقرار خلايا الدم الحمراء . قد تكون وراثة هذا المرض جسمية سائدة؛ و لكن في أغلب الأحيان وراثته جسمية متنحية. نقص البيروفات كايناز هو السبب الثاني الأكثر شيوعاً لفقر الدم الانحلالي التابع لنقص أو عوز في إنزيم، بعد الفوال. (ar) Der Pyruvatkinasemangel (PK), genauer Pyruvatkinase-Mangel der Erythrozyten oder Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase ist eine seltene angeborene Störung der Glykolyse mit dem Hauptmerkmal einer hämolytischen Anämie. Die Erkrankung gilt als die häufigste Ursache einer angeborenen, nicht-sphärozytären hämolytischen Anämie. Die Erstbeschreibung stammt aus dem Jahre 1961 durch die US-Amerikaner William N. Valentine und Mitarbeiter. (de) Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. 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. (en) Il deficit di piruvato chinasi è una malattia metabolica ereditaria dell'enzima piruvato chinasi che influenza la sopravvivenza dei globuli rossi. L'ereditarietà è sia autosomica dominante che recessiva; classicamente, e più comunemente, l'ereditarietà è autosomica recessiva. Il deficit di piruvato chinasi è, dopo il deficit di G6PD, la seconda causa più comune di anemia emolitica dovuta alla carenza di un enzima. (it) Niedobór kinazy pirogronianowej – defekt enzymatyczny krwinek czerwonych polegający na braku lub niedoborze kinazy pirogronianowej (PK), ważnego enzymu szlaku glikolizy. W znacznej mierze ma charakter wrodzony, związany z dziedziczeniem. Tylko znikomy odsetek chorych ma nabytą postać zaburzenia. (pl) Le déficit en pyruvate kinase est une maladie génétique (orpheline) à transmission autosomale récessive, c'est-à-dire que les patients sont le plus souvent, en l'absence de consanguinité, des hétérozygotes composites (les parents sont hétérozygotes et porteurs sains. Il est du à une mutation sur le gène PKLR. Les patients présentent une anémie hémolytique chronique plus ou moins importante et un ictère très visible (peau et yeux jaunes), les urines sont également foncés. Ce type d'anémie pourrait conférer une certaine protection contre le Plasmodium falciparum responsable du paludisme. (fr)
foaf:name	Pyruvate kinase deficiency (en)
name	Pyruvate kinase deficiency (en)
foaf:depiction
dcterms:subject	Inborn errors of carbohydrate metabolism Hereditary hemolytic anemias
Wikipage page ID	1017889 (xsd:integer)
Wikipage revision ID	1114573031 (xsd:integer)
Link from a Wikipage to another Wikipage	Potassium Pyruvate kinase dbr:Pyruvic_acid Metabolic disorder Blood transfusion List of hematologic conditions Reticulocyte Complete blood count Zygosity G6PD deficiency Gall bladder Glycolysis Mitochondrion Anemia Shortness of breath Compound heterozygosity Fatigue Hemolysis Hemolytic anemia Autosomal recessive Inborn errors of carbohydrate metabolism Iron overload Adenosine diphosphate Adenosine triphosphate Hereditary hemolytic anemias Oxidative phosphorylation PKLR Cell membrane Cell nucleus Isozyme Red blood cell Hematopoietic stem cell transplantation Jaundice ATPase Tachycardia Heredity Missense mutation Mitapivat Dominance (genetics) Autosome Sodium Splenectomy Splenomegaly Recessive Gene frequency Virus Tonicity Reticulocytosis Ulcers Luebering-Rapoport pathway Bile salts Phosphoenolpyruvate

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 53 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software