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