Pyruvate Kinase Deficiency in Twin babies

Prevalence of Pyruvate Kinase Deficiency among the Newborns (Shiraz-Iran)

Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...

Pyruvate kinase deficiency.

Erythrocyte pyruvate kinase deficiency among anemic individuals in Bandar Abbas, Iran

Introduction: In addition to G6PD deficiency, human erythrocyte pyruvate kinase (PK-R) deficiency is one of the most common causes of non-spherocytic hemolytic anemia. Clinical severity of this disorder is not the same in homozygote form of this disease and ranges from mild to chronic and anemia; so it has a wide variation. Severely effected individuals require blood transfusions or splenectomy...

prevalence of pyruvate kinase deficiency among the newborns (shiraz-iran)

background: the frequency of pyruvate kinase (pk) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. the purpose of this study is to obtain data on the frequency and spectrum of gene mutation of pk in newborns, from shiraz and surrounding areas. materials and methods...

Single-nucleotide substitution in pyruvate kinase deficiency.

Pyruvate kinase (PK) deficiency is the most common disorder among glycolytic enzyme defect causing hereditary hemolytic anemia. Since the first case was reported 30 years ago, over 300 cases have been reported. In 1988, we isolated the cDNA clones for human L-type PK,’ and last year we reported the cDNA cloning of R-type PK and the single amino acid substitution (ThIJg4 to Met) causedbyapointmu...