Research & Literature

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, et al.

Orphanet journal of rare diseases 2015; (10()):138 doi:10.1186/s13023-015-0358-y.

A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.

Grahn A, Bengtson P, Eklund E, Asin-Cayuela J

Clinical biochemistry 2016; (49(6)):511-513 doi:10.1016/j.clinbiochem.2015.12.001.

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].

Ren C, Fang F, Huang Y, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2015; (53(12)):938-42.

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, et al.

Journal of inherited metabolic disease 2017; (40(5)):709-713 doi:10.1007/s10545-017-0028-4.

Three families with mild PMM2-CDG and normal cognitive development.

Vals MA, Morava E, Teeäär K, et al.

American journal of medical genetics. Part A 2017; (173(6)):1620-1624 doi:10.1002/ajmg.a.38235.

PMM2-CDG and sensorineural hearing loss.

Kasapkara ÇS, Barış Z, Kılıç M, et al.

Journal of inherited metabolic disease 2017; (40(5)):629-630 doi:10.1007/s10545-017-0073-z.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Schiff M, Roda C, Monin ML, et al.

Journal of medical genetics 2017; (54(12)):843-851 doi:10.1136/jmedgenet-2017-104903.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Izquierdo-Serra M, Martínez-Monseny AF, López L, et al.

International journal of molecular sciences 2018; (19(2)) doi:10.3390/ijms19020619.

Recognizable phenotypes in CDG.

Ferreira CR, Altassan R, Marques-Da-Silva D, et al.

Journal of inherited metabolic disease 2018; (41(3)):541-553 doi:10.1007/s10545-018-0156-5.

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Witters P, Honzik T, Bauchart E, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(5)):1181-1188 doi:10.1038/s41436-018-0301-4.

Review of Ocular Manifestations of Joubert Syndrome.

Wang SF, Kowal TJ, Ning K, et al.

Genes 2018; (9(12)) doi:10.3390/genes9120605.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, et al.

Journal of inherited metabolic disease 2019; (42(1)):5-28 doi:10.1002/jimd.12024.

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

Martínez-Monseny AF, Bolasell M, Callejón-Póo L, et al.

Annals of neurology 2019; (85(5)):740-751 doi:10.1002/ana.25457.

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM

Movement disorders : official journal of the Movement Disorder Society 2019; (34(5)):625-636 doi:10.1002/mds.27655.

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Moravej H, Altassan R, Jaeken J, et al.

JIMD reports 2020; (51(1)):76-81 doi:10.1002/jmd2.12085.

PMM2-CDG caused by uniparental disomy: Case report and literature review.

Vaes L, Tiller GE, Pérez B, et al.

JIMD reports 2020; (54(1)):16-21 doi:10.1002/jmd2.12122.

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.

Slaba K, Noskova H, Vesela P, et al.

Frontiers in genetics 2020; (11()):561054 doi:10.3389/fgene.2020.561054.

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

Qian Z, Van den Eynde J, Heymans S, et al.

JIMD reports 2020; (56(1)):27-33 doi:10.1002/jmd2.12160.

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Starosta RT, Boyer S, Tahata S, et al.

Orphanet journal of rare diseases 2021; (16(1)):20 doi:10.1186/s13023-020-01630-2.

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Pettinato F, Mostile G, Battini R, et al.

Cerebellum (London, England) 2021; (20(4)):596-605 doi:10.1007/s12311-021-01242-x.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Čechová A, Honzík T, Edmondson AC, et al.

Molecular genetics and metabolism 2021; (133(4)):397-399 doi:10.1016/j.ymgme.2021.06.003.

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.

Ligezka AN, Radenkovic S, Saraswat M, et al.

Annals of neurology 2021; (90(6)):887-900 doi:10.1002/ana.26245.

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.

Serrano M

Frontiers in pediatrics 2021; (9()):717864 doi:10.3389/fped.2021.717864.

Genotype-Phenotype Correlations in PMM2-CDG.

Vaes L, Rymen D, Cassiman D, et al.

Genes 2021; (12(11)) doi:10.3390/genes12111658.

PMM2-CDG and nephrotic syndrome: A case report.

Banderali G, Salvatici E, Rovelli V, Jaeken J

Clinical case reports 2022; (10(2)):e05347 doi:10.1002/ccr3.5347.

Patient-reported outcomes and quality of life in PMM2-CDG.

Ligezka AN, Mohamed A, Pascoal C, et al.

Molecular genetics and metabolism 2022; (136(2)):145-151 doi:10.1016/j.ymgme.2022.04.002.

A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic.

Hong X, Alharbi H, Albokhari D, et al.

Clinical chemistry 2022; (68(7)):987-989 doi:10.1093/clinchem/hvac012.

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].

Zhou SY

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(2)):223-228 doi:10.7499/j.issn.1008-8830.2209049.

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.

De Graef D, Ligezka AN, Rezents J, et al.

Molecular genetics and metabolism 2023; (139(2)):107606 doi:10.1016/j.ymgme.2023.107606.

PMM2 -CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India.

Sreedevi N, Swapna N, Maruthy S, et al.

Global medical genetics 2023; (10(2)):105-108 doi:10.1055/s-0043-1769494.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Wicker C, Roux CJ, Goujon L, et al.

Molecular genetics and metabolism 2023; (140(3)):107674 doi:10.1016/j.ymgme.2023.107674.

Brief history of the alcohol biomarkers CDT, EtG, EtS, 5-HTOL, and PEth.

Jones AW

Drug testing and analysis 2024; (16(6)):570-587 doi:10.1002/dta.3584.

"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.

Raynor A, Bruneel A, Vermeersch P, et al.

Proteomics. Clinical applications 2024; (18(2)):e2300040 doi:10.1002/prca.202300040.

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.

Muthusamy K, Perez-Ortiz JM, Ligezka AN, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(2)):101027 doi:10.1016/j.gim.2023.101027.

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG).

Zhong M, Balakrishnan B, Guo AJ, Lai K

Molecular genetics and metabolism reports 2024; (38()):101035 doi:10.1016/j.ymgmr.2023.101035.

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.

Cirnigliaro L, Pettinato F, Valle MS, et al.

Orphanet journal of rare diseases 2024; (19(1)):39 doi:10.1186/s13023-024-03027-x.

High-dose systemic adeno-associated virus vector administration causes liver and sinusoidal endothelial cell injury.

Hordeaux J, Lamontagne RJ, Song C, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2024; (32(4)):952-968 doi:10.1016/j.ymthe.2024.02.002.

Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.

Bossier C, Stark C, Martakis K, et al.

Journal of musculoskeletal & neuronal interactions 2024; (24(1)):12-21.

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.

Radenkovic S, Budhraja R, Klein-Gunnewiek T, et al.

Cell reports 2024; (43(3)):113883 doi:10.1016/j.celrep.2024.113883.

Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report.

Karafyllis I, Nuoffer JM, Michelis JP, Chilver-Stainer L

Case reports in neurology 2024; (16(1)):55-62 doi:10.1159/000536679.

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.

Pascoal C, Francisco R, Mexia P, et al.

Frontiers in immunology 2024; (15()):1350101 doi:10.3389/fimmu.2024.1350101.

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Zemet R, Hope KD, Edmondson AC, et al.

Molecular genetics and metabolism 2024; (142(4)):108513 doi:10.1016/j.ymgme.2024.108513.

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).

Weixel T, Adedipe D, Muldoon G, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12782 doi:10.1002/jimd.12782.

Sensitivity of transferrin isoform analysis for PMM2-CDG.

Hall PL, Liedke K, Turgeon C, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108564 doi:10.1016/j.ymgme.2024.108564.

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Granjo P, Pascoal C, Gallego D, et al.

Orphanet journal of rare diseases 2024; (19(1)):407 doi:10.1186/s13023-024-03389-2.

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Holubova V, Barone R, Grunewald S, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12826 doi:10.1002/jimd.12826.

A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.

Oliveira T, Ferraz R, Azevedo L, et al.

Orphanet journal of rare diseases 2025; (20(1)):207 doi:10.1186/s13023-025-03669-5.

Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG.

Zhang H, Zhang J, Ma W, et al.

Molecular genetics and metabolism 2025; (145(4)):109178 doi:10.1016/j.ymgme.2025.109178.

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.

Ødum SF, Grønborg SW, Main KM, Klose M

JCEM case reports 2025; (3(11)):luaf237 doi:10.1210/jcemcr/luaf237.

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor.

Jalazo ER, Weisenfeld LA, Ligezka A, et al.

JIMD reports 2025; (66(6)):e70043 doi:10.1002/jmd2.70043.