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GENATLAS PHENOTYPE
last update : 08-04-2009
Symbol GPID
Location 19q13.11
Name glucose phosphate isomerase deficiency
Other name(s) . GPI deficiency
  • hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
  • Corresponding gene GPI
    Other symbol(s) CNSHA
    Main clinical features
  • nonspherocytic hemolytic anemia, spontaneous hemolytic crisis
  • gallstones, splenomegaly, muscle weakness,
  • a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment
  • Genetic determination autosomal recessive
    Prevalence GPI deficiency is the second most frequent erythroenzymopathy in glycolysis
    Function/system disorder hematology
    Type disease
    Gene product
    Name glucose phosphate isomerase (GPI) is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate
    Remark(s) most symptomatic cases are homozygous or compound heterozygous