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). 1985

W Schröter, and S W Eber, and A Bardosi, and M Gahr, and M Gabriel, and F C Sitzmann

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.

UI MeSH Term Description Entries
D008297 Male Males
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009468 Neuromuscular Diseases A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. Amyotonia Congenita,Oppenheim Disease,Cramp-Fasciculation Syndrome,Fasciculation-Cramp Syndrome, Benign,Foley-Denny-Brown Syndrome,Oppenheim's Disease,Benign Fasciculation-Cramp Syndrome,Benign Fasciculation-Cramp Syndromes,Cramp Fasciculation Syndrome,Cramp-Fasciculation Syndromes,Fasciculation Cramp Syndrome, Benign,Fasciculation-Cramp Syndromes, Benign,Foley Denny Brown Syndrome,Neuromuscular Disease,Oppenheims Disease,Syndrome, Cramp-Fasciculation,Syndrome, Foley-Denny-Brown,Syndromes, Cramp-Fasciculation
D010585 Phagocyte Bactericidal Dysfunction Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. Bactericidal Dysfunction, Phagocyte,Bactericidal Dysfunctions, Phagocyte,Dysfunction, Phagocyte Bactericidal,Dysfunctions, Phagocyte Bactericidal,Phagocyte Bactericidal Dysfunctions
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005956 Glucose-6-Phosphate Isomerase An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA. Glucosephosphate Isomerase,Phosphoglucose Isomerase,Phosphohexose Isomerase,Autocrine Motility Factor,Isomerase, Glucose 6 Phosphate,Neuroleukin,Tumor Autocrine Motility Factor,Tumor-Cell Autocrine Motility Factor,Factor, Autocrine Motility,Glucose 6 Phosphate Isomerase,Isomerase, Glucose-6-Phosphate,Isomerase, Glucosephosphate,Isomerase, Phosphoglucose,Isomerase, Phosphohexose,Motility Factor, Autocrine,Tumor Cell Autocrine Motility Factor
D006098 Granulocytes Leukocytes with abundant granules in the cytoplasm. They are divided into three groups according to the staining properties of the granules: neutrophilic, eosinophilic, and basophilic. Mature granulocytes are the NEUTROPHILS; EOSINOPHILS; and BASOPHILS. Granulocyte
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000745 Anemia, Hemolytic, Congenital Hemolytic anemia due to various intrinsic defects of the erythrocyte. Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias

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