Gene: [19q131/GPI] glucosephosphate isomerase (phosphohexose isomerase); phosphoglucose isomerase (phosphohexose isomerase); anemia hemolytic nonspherocytic (GPI deficiency);


TIS

Tissue-specific forms of glucosephosphate isomerase (GPI) are not yet revealed, and so the reason for selective leison of red blood cells in the hereditary GPI deficiencies is not clear. Blume-1972 described a simple method of scrining for GPI deficiency."

PAT

[1] When a genetic defect is present, the decrease in glucosephosphate isomerase (GPI) activity is found in all organs and tissues. But the morphofunctional defects do not occur in nonerythroid cells, the only manifestation of mild GPI deficiencies consists in more or less pronounced nonspherocytic hemolytic anemia (Baughan-1968). In some cases, the destruction of red blood cells decreases with age (Hutton-1974). Spleen ablation may weaken the hemolisis though not completely eliminate it completely (Paglia-1969, Matsumoto-1973).
[2] Schroter-1985 described a case of the generalized GPI deficiency (GPI-Homburg), which clinical manifestations included, in addition to recurrent spontaneous hemolitic crises, neuromuscular lesions (myasthenia, sensitive and cerebellar ataxia), mental retardation, and deecreased immunity. A number of fetal hydrops cases were also described (this rarely the case in erythrocitic enzymopathies); in addition, there was a case of early neonatal death in an Indian family, hemolitic anemia in the survived proband being related with GPI deficiency (Ravindranath-1987)."

REF

REV,PHE,MEB,MUT "Arnold H: Blut, 39, 405-417, 1979
HIS,PAT,PHE,MUT "Baughan &: Blood, 32, 236-249, 1968
MET,MEB,PND "Blume, Beutler: Blood, 39, 685-687, 1972
MUT,PHE,FOG,MEB "Bonne-Tamir B &: Hum Genet, 77, N1, 76-79, 1987
LOC,CYG "Brook JD &: Hum Genet, 68, 282-285, 1984
HIS,PAT,PHE,MUT "Detter &: Ann Hum Genet, 31, 328-338, 1968
PHE,MEB,MUT,FOG "Hutton, Chilcote: J Pediatr, 85, 494-497, 1974
MUT,MEB,PHE "Isacchi &: Hum Genet, 46, 219-226, 1979
MUT,MEB,PHE "Kahn &: Hum Genet, 40, 293-304, 1978
LOC,LIN,CYG "Kaneda Y &: Chromosoma, 95, 8-12, 1987
LOC,LIN,CYG "Lusis AJ &: PNAS, 83, N11, 3929-3933, 1986
LOC,LIN,CYG "Lusis AJ &: CCG, 40, (HGM8), 683, 1985
PHE,MEB,MUT,FOG "Matsumoto N &: Acta Haematol Jap, 36, N1, 46-51, 1973
LOC,CYG,FAG "McMorris FA &: Science, 179, 1129-1131, 1973
MUT,MEB,PHE "Mohrenweiser &: Hum Genet, 75, 28-31, 1987
PHE,MEB,MUT,FOG "Nakashima &: AJHG, 25, 294-301, 1973
PAT,MEB "Neubauer &: Acta Haematol, 83, N4, 206-210, 1990
REV,PHE,MEB,MUT "Paglia, Valentine: Am J Clin Path, 62, 740-751, 1974
HIS,PAT,PHE,MUT "Paglia &: New Engl J Med, 280, 66-71, 1969
PHE,PAT,FOG "Ravindranath &: New Engl J Med, 316, 258-261, 1987
POG,FOG,MEB "Satoh C, Mohrenweiser: Ann Hum Genet, 42, 283-292, 1979
LIN,MAF "Schonk D &: CCG, 51, (HGM10), 1075, 1989a
LIN,MAF "Schonk D &: Genomics, 4, N3, 384-396, 1989b
PAT,PHE,TER,MEB,MUT "Schroter &: Eur J Pediatr, 144, 301-305, 1985
REV,PAT,PHE,FOG,PND "Whitelaw &: J Med Genet, 16, 189-196, 1979

KEY

glyc, mtbd

CLA

coding, basic

LOC

19 q13.1

MIM

MIM: 172400

EZN

ENZYME: 5.3.1.9