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
|