Pyruvate kinase deficiency

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

Symptoms can be extremely varied among those suffering from pyruvate kinase deficiency. The majority of those suffering from the disease are detected at birth while some only present symptoms during times of great physiological stress such as pregnancy, or with acute illnesses (viral disorders). Symptoms are limited to or most severe during childhood. Among the symptoms of pyruvate kinase deficiency are:

Pyruvate kinase deficiency is due to a mutation in the PKLR gene. There are four pyruvate kinase isoenzymes, two of which are encoded by the PKLR gene (isoenzymes L and R, which are used in the liver and erythrocytes, respectively). Mutations in the PKLR gene therefore cause a deficiency in the pyruvate kinase enzyme.

180 different mutations have been found on the gene coding for the L and R isoenzymes, 124 of which are single-nucleotide missense mutations. Pyruvate kinase deficiency is most commonly an autosomal recessive trait. Although it is mostly homozygotes that demonstrate symptoms of the disorder,compound heterozygotes can also show clinical signs.

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Wikipedia