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Phosphoglucomutase 4(PGM4)

MedGen UID:: 358301
•Concept ID:: C1868356
•: Finding

Synonyms:	MILK PGM; PGM4

Monarch Initiative:	MONDO:0008239
OMIM®:	172110

Professional guidelines

PubMed

Simultaneous phenotyping of genetic markers for paternity testing.

Tamaki Y, Nishimukai H, Kishida T, Fukuda M
Z Rechtsmed 1987;99(2):135-42. doi: 10.1007/BF00200633. PMID: 3480666

Foetal macrosomia in diabetic pregnancy. Further data on the association with maternal PGM1 genotype.

Lucarini N, Gerlini G, Gloria-Bottini F, Gori MC, Borgiani P, Caprella ML, Bottini E
Diabetes Res 1987 Aug;5(4):169-74. PMID: 2959427

Genetic polymorphism and intrauterine development: the role of maternal PGM and MNSs genotypes.

Gloria-Bottini F, Lucarini N, Bonci E, Pascasio F, Bonci M, Assumma M, Scalamandré A, Bottini E
Am J Dis Child 1986 Apr;140(4):324-6. doi: 10.1001/archpedi.1986.02140180058013. PMID: 2937287

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Recent clinical studies

Etiology

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E
Mol Genet Metab 2024 Aug;142(4):108530. Epub 2024 Jul 2 doi: 10.1016/j.ymgme.2024.108530. PMID: 38968673

Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.

Jacob M, Masood A, Abdel Rahman AM
Int J Mol Sci 2023 Jan 26;24(3) doi: 10.3390/ijms24032406. PMID: 36768728 Free PMC Article

Klebsiella pneumoniae enolase-like membrane protein interacts with human plasminogen.

Serek P, Lewandowski Ł, Dudek B, Pietkiewicz J, Jermakow K, Kapczyńska K, Krzyżewska E, Bednarz-Misa I
Int J Med Microbiol 2021 Aug;311(6):151518. Epub 2021 Jul 3 doi: 10.1016/j.ijmm.2021.151518. PMID: 34237624

Isoenzyme characterisation of Trichomonas vaginalis.

Soliman MA, Ackers JP, Catterall RD
Br J Vener Dis 1982 Aug;58(4):250-6. doi: 10.1136/sti.58.4.250. PMID: 6980685 Free PMC Article

Mannose metabolism. I.

Herman RH
Am J Clin Nutr 1971 Apr;24(4):488-98. doi: 10.1093/ajcn/24.4.488. PMID: 4933108

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Diagnosis

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E
Mol Genet Metab 2024 Aug;142(4):108530. Epub 2024 Jul 2 doi: 10.1016/j.ymgme.2024.108530. PMID: 38968673

Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.

Jacob M, Masood A, Abdel Rahman AM
Int J Mol Sci 2023 Jan 26;24(3) doi: 10.3390/ijms24032406. PMID: 36768728 Free PMC Article

Enzymatic and structural characterization of HAD5, an essential phosphomannomutase of malaria-causing parasites.

Frasse PM, Miller JJ, Polino AJ, Soleimani E, Zhu JS, Jakeman DL, Jez JM, Goldberg DE, Odom John AR
J Biol Chem 2022 Feb;298(2):101550. Epub 2021 Dec 29 doi: 10.1016/j.jbc.2021.101550. PMID: 34973333 Free PMC Article

Review: Diagnostic accuracy of PCR-based detection tests for Helicobacter Pylori in stool samples.

Khadangi F, Yassi M, Kerachian MA
Helicobacter 2017 Dec;22(6) Epub 2017 Sep 29 doi: 10.1111/hel.12444. PMID: 28961384

Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease.

Socha P, Vajro P, Lefeber D, Adamowicz M, Tanner S
Clin Res Hepatol Gastroenterol 2014 Sep;38(4):403-6. Epub 2014 Jun 25 doi: 10.1016/j.clinre.2014.04.012. PMID: 24972800

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Therapy

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.

Morava E
Mol Genet Metab 2014 Aug;112(4):275-9. Epub 2014 Jun 21 doi: 10.1016/j.ymgme.2014.06.002. PMID: 24997537 Free PMC Article

Diagnostic and management difficulties in a case of multiple intracranial juvenile xanthogranuloma.

Chiba K, Aihara Y, Eguchi S, Tanaka M, Komori T, Nakazato Y, Okada Y
Childs Nerv Syst 2013 Jun;29(6):1039-45. Epub 2013 Apr 19 doi: 10.1007/s00381-013-2100-1. PMID: 23604362

Validating GSK3 as an in vivo target of lithium action.

O'Brien WT, Klein PS
Biochem Soc Trans 2009 Oct;37(Pt 5):1133-8. doi: 10.1042/BST0371133. PMID: 19754466 Free PMC Article

Molecular effects of lithium.

Quiroz JA, Gould TD, Manji HK
Mol Interv 2004 Oct;4(5):259-72. doi: 10.1124/mi.4.5.6. PMID: 15471909

Genetic markers: association study in migraine.

Pardo J, Carracedo A, Muñoz I, Castillo J, Lema M, Noya M
Cephalalgia 1995 Jun;15(3):200-4. doi: 10.1046/j.1468-2982.1995.015003200.x. PMID: 7553809

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Prognosis

Fecal Helicobacter pylori glmM and 16S rRNA genes correlate with serum TNF-α and IL-1β cytokine fluctuations.

Moradipour A, Khosravi A, Piri F
Acta Microbiol Immunol Hung 2018 Dec 1;65(4):489-499. Epub 2018 Jul 19 doi: 10.1556/030.65.2018.030. PMID: 30024269

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.

Loewenthal N, Haim A, Parvari R, Hershkovitz E
Am J Med Genet A 2015 Dec;167A(12):3139-43. Epub 2015 Aug 19 doi: 10.1002/ajmg.a.37294. PMID: 26768186

Phosphoglucomutase activity as a novel biomarker in patients with acute myocardial infarction.

Nishinari M, Aoyama N, Ogawa Z, Yukino S, Oka S, Yano K, Kurosaki Y, Takeuchi I, Imaki R, Tojo T, Shimohama T, Takehana H, Izumi T
Circ J 2012;76(9):2197-203. Epub 2012 Jun 8 doi: 10.1253/circj.cj-11-1444. PMID: 22785563

Glomerular expression of monocyte chemoattractant protein-1 is predictive of poor renal prognosis in pediatric lupus nephritis.

Marks SD, Williams SJ, Tullus K, Sebire NJ
Nephrol Dial Transplant 2008 Nov;23(11):3521-6. Epub 2008 May 21 doi: 10.1093/ndt/gfn270. PMID: 18495743

Association between Rh and plasma iron binding (transferrin).

Valenzuela CY, Avendaño A, Harb Z
Hum Genet 1991 Aug;87(4):438-40. doi: 10.1007/BF00197164. PMID: 1908818

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Clinical prediction guides

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E
Mol Genet Metab 2024 Aug;142(4):108530. Epub 2024 Jul 2 doi: 10.1016/j.ymgme.2024.108530. PMID: 38968673

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.

Tian WT, Luan XH, Zhou HY, Zhang C, Huang XJ, Liu XL, Chen SD, Tang HD, Cao L
Neuromuscul Disord 2019 Apr;29(4):282-289. Epub 2019 Jan 6 doi: 10.1016/j.nmd.2019.01.001. PMID: 30737079

Subpollen particles are rich carriers of major short ragweed allergens and NADH dehydrogenases: quantitative proteomic and allergomic study.

Smiljanic K, Apostolovic D, Trifunovic S, Ognjenovic J, Perusko M, Mihajlovic L, Burazer L, van Hage M, Cirkovic Velickovic T
Clin Exp Allergy 2017 Jun;47(6):815-828. Epub 2017 Jan 19 doi: 10.1111/cea.12874. PMID: 28000951

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.

Morava E
Mol Genet Metab 2014 Aug;112(4):275-9. Epub 2014 Jun 21 doi: 10.1016/j.ymgme.2014.06.002. PMID: 24997537 Free PMC Article

Validating GSK3 as an in vivo target of lithium action.

O'Brien WT, Klein PS
Biochem Soc Trans 2009 Oct;37(Pt 5):1133-8. doi: 10.1042/BST0371133. PMID: 19754466 Free PMC Article

See all (49)