title: 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).
abstract: 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.
mesh_terms: D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics / Q000378:metabolism; D006098:Granulocytes / Q000201:enzymology; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology; D009468:Neuromuscular Diseases / Q000201:enzymology / Q000235:genetics*; D010585:Phagocyte Bactericidal Dysfunction / Q000201:enzymology / Q000235:genetics*; D013577:Syndrome
chemical_list: D005956:Glucose-6-Phosphate Isomerase