Glucose Phosphate Isomerase Deficiency with Congenital Nonspherocytic Hemolytie Anemia: A New Variant (Type Nordhorn). II. Purification and Biochemical Properties of the Defective Enzyme

Arnold, H.; Blume, K. G.; Löhr, G. W.; Schröter, W.; Koch, Holger; Wonneberger, B

doi:10.1203/00006450-197401000-00005

Cited by 23 publications

(4 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Membrane proteins were separated by denaturing SDS-polyacrylamide gel electrophoresis according to Lfimmli [14]. The variant GPI was partially purified from erythrocytes by chromatography on Sephadex A50 [2]. Phagocytosis and bactericidal activity were determined by the procedure of van Furth and van Zwet [12].…”

Section: Introductionmentioning

confidence: 99%

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

et al. 1985

View full text Add to dashboard Cite

A new glucosephosphate isomerase (GPI) variant is described which is characterised by very low specific activity in erythrocytes, granulocytes and muscle tissue, nearly normal stability, normal kinetic properties and a decreased electrophoretic mobility. The propositus suffers from a complex syndrome involving erythrocytes (congenital haemolytic anaemia), granulocytes (decreased production of superoxide anion and reduced bactericidal activity in vitro) and the neuromuscular system (myopathy, mental retardation). It is suggested that the clinical syndrome results from generalised GPI deficiency due to a decreased specific activity of the variant enzyme, which cannot be compensated by an increase of de-novo synthesis of GPI protein even in cells exhibiting active protein synthesis such as granulocytes and muscle cells.

show abstract

Section: Introductionmentioning

confidence: 99%

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

et al. 1985

View full text Add to dashboard Cite

show abstract

“…The substrates of this enzyme, fructose-6-phosphate and G6P, are intermediates in glycolysis and gluconeogenesis, as well as intermediates in the pentose phosphate cycle. In humans, GPI deficiency comprises the third most common hereditary enzyme defect of red cells after G6P dehydrogenase deficiency and pyruvate kinase deficiency and has the typical manifestation of nonspherocytic hemolytic anemia (1)(2)(3)(4)(5)(6)(7)(8)(9). It has been reported that severe GPI deficiency can be a cause of hydrops fetalis in humans (10).…”

Section: Introductionmentioning

confidence: 99%

The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.

Xu¹,

Beutler²

1994

J. Clin. Invest.

View full text Add to dashboard Cite

show abstract

“…Purzjication: Red cell GPI for biochemical characterization was purified 8000-fold by the method of Arnold (10) in the presence of mercaptoethanol. The biochemical characterization was carried out on both the crude haemolysate and purified enzyme.…”

Section: Enzyme Biochemical Characterizationmentioning

confidence: 99%

Glucose phosphate isomerase (GPI) “Morcone”: A new variant from Italy

Alfinito¹,

Ferraro²,

Rocco³

et al. 1994

European J of Haematology

View full text Add to dashboard Cite

Here we report the 4th Italian case of glucose phosphate isomerase (GPI) deficiency. The propositus is a young man suffering from chronic haemolytic anaemia since birth with occasional transfusion requirement. Biochemical characterization of the defective enzyme revealed increased affinity for F‐6‐P, decreased affinity for G‐6‐P and marked thermoinstability. Electrophoretic mobility appeared normal. GPI from both parents showed similar but less pronounced biochemical alterations. The variant described here seems to be different from those previously reported. Thus, we propose the provisional name of GPI “Morcone”.

show abstract

Glucose Phosphate Isomerase Deficiency with Congenital Nonspherocytic Hemolytie Anemia: A New Variant (Type Nordhorn). II. Purification and Biochemical Properties of the Defective Enzyme

Cited by 23 publications

References 1 publication

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)

The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.

Glucose phosphate isomerase (GPI) “Morcone”: A new variant from Italy

Contact Info

Product

Resources

About