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Glucose phosphate isomerase deficiency

MedGen UID:
584934
•Concept ID:
C0398561
•
Disease or Syndrome
Synonyms: Glucose Phosphate Isomerase Deficiency; GPI - Glucose phosphate isomerase deficiency
SNOMED CT: Glucose phosphate isomerase deficiency (234404008); GPI - Glucose phosphate isomerase deficiency (234404008)

Definition

A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlucose phosphate isomerase deficiency

Professional guidelines

PubMed

Red blood cell disorders in Rwandese neonates: screening for sickle cell disease and glucose-6-phosphate dehydrogenase deficiency.
Munyanganizi R, Cotton F, Vertongen F, Gulbis B
J Med Screen 2006;13(3):129-31. doi: 10.1258/096914106778440626. PMID: 17007653
Detection of glucose-phosphate isomerase deficiency by a screening procedure.
Blume KG, Beutler E
Blood 1972 May;39(5):685-7. PMID: 5022716

Recent clinical studies

Etiology

Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358
First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency.
Dallapiccola B, Novelli G, Ferranti G, Pachi A, Cristiani ML, Magnani M
Prenat Diagn 1986 Mar-Apr;6(2):101-7. doi: 10.1002/pd.1970060205. PMID: 3703821

Diagnosis

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.
Holme S, van Wijk R, Rasmussen AØ, Petersen J, Glenthøj A
J Med Case Rep 2024 Mar 28;18(1):130. doi: 10.1186/s13256-024-04466-7. PMID: 38539245Free PMC Article
The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.
Wang Y, Liu T, Liu J, Xiang Y, Huang L, Li J, An X, Cui S, Feng Z, Yu J
BMC Med Genomics 2023 Jul 10;16(1):162. doi: 10.1186/s12920-023-01603-x. PMID: 37430284Free PMC Article
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234
Red blood cell disorders in Rwandese neonates: screening for sickle cell disease and glucose-6-phosphate dehydrogenase deficiency.
Munyanganizi R, Cotton F, Vertongen F, Gulbis B
J Med Screen 2006;13(3):129-31. doi: 10.1258/096914106778440626. PMID: 17007653
First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency.
Dallapiccola B, Novelli G, Ferranti G, Pachi A, Cristiani ML, Magnani M
Prenat Diagn 1986 Mar-Apr;6(2):101-7. doi: 10.1002/pd.1970060205. PMID: 3703821

Therapy

Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency.
Schröter W
Eur J Pediatr 1980 Oct;135(1):41-3. doi: 10.1007/BF00445891. PMID: 7449787

Prognosis

The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.
Wang Y, Liu T, Liu J, Xiang Y, Huang L, Li J, An X, Cui S, Feng Z, Yu J
BMC Med Genomics 2023 Jul 10;16(1):162. doi: 10.1186/s12920-023-01603-x. PMID: 37430284Free PMC Article
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene.
See WQ, So CJ, Cheuk DK, van Wijk R, Ha SY
J Pediatr Hematol Oncol 2020 Oct;42(7):e696-e697. doi: 10.1097/MPH.0000000000001582. PMID: 31415279
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358
Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia.
Huppke P, Wünsch D, Pekrun A, Kind R, Winkler H, Schröter W, Lakomek M
Eur J Pediatr 1997 Aug;156(8):605-9. doi: 10.1007/s004310050674. PMID: 9266190
Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia.
Hutton JJ, Chilcote RR
J Pediatr 1974 Oct;85(4):494-7. doi: 10.1016/s0022-3476(74)80451-8. PMID: 4443856

Clinical prediction guides

The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.
Wang Y, Liu T, Liu J, Xiang Y, Huang L, Li J, An X, Cui S, Feng Z, Yu J
BMC Med Genomics 2023 Jul 10;16(1):162. doi: 10.1186/s12920-023-01603-x. PMID: 37430284Free PMC Article
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358
Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia.
Hutton JJ, Chilcote RR
J Pediatr 1974 Oct;85(4):494-7. doi: 10.1016/s0022-3476(74)80451-8. PMID: 4443856

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