Research & Literature

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

Bengtson P, Ng BG, Jaeken J, et al.

Journal of inherited metabolic disease 2016; (39(1)):107-14 doi:10.1007/s10545-015-9884-y.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Pérez-Cerdá C, Girós ML, Serrano M, et al.

The Journal of pediatrics 2017; (183()):170-177.e1 doi:10.1016/j.jpeds.2016.12.060.

[Protein-losing enteropathy].

Parfenov AI, Krums LM

Terapevticheskii arkhiv 2017; (89(2)):4-9 doi:10.17116/terarkh20178924-9.

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.

An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib.

Haznedar P, Eminoğlu FT

Turk pediatri arsivi 2020; (55(1)):79-81 doi:10.5152/TurkPediatriArs.2018.18004.

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Čechová A, Altassan R, Borgel D, et al.

Journal of inherited metabolic disease 2020; (43(4)):671-693 doi:10.1002/jimd.12241.

Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.

Mühlhausen C, Henneke L, Schlotawa L, et al.

JIMD reports 2020; (55(1)):38-43 doi:10.1002/jmd2.12149.

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy.

Noman K, Hendriksz CJ, Radcliffe G, et al.

Molecular genetics and metabolism reports 2020; (25()):100646 doi:10.1016/j.ymgmr.2020.100646.

Long term outcome of MPI-CDG patients on D-mannose therapy.

Girard M, Douillard C, Debray D, et al.

Journal of inherited metabolic disease 2020; (43(6)):1360-1369 doi:10.1002/jimd.12289.

MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.

Abdel Ghaffar TY, Ng BG, Elsayed SM, et al.

JIMD reports 2020; (56(1)):20-26 doi:10.1002/jmd2.12159.

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Bogdańska A, Lipiński P, Szymańska-Rożek P, et al.

Orphanet journal of rare diseases 2021; (16(1)):17 doi:10.1186/s13023-020-01657-5.

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.

Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient.

Lebredonchel E, Duvet S, Douillard C, et al.

JIMD reports 2021; (62(1)):22-29 doi:10.1002/jmd2.12247.

Case Report: Food Protein-Induced Protein Losing Enteropathy (FPIPLE) in Infancy.

Feketea G, Popp A, Ionescu DM, Berghea EC

Frontiers in nutrition 2022; (9()):810409 doi:10.3389/fnut.2022.810409.

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

Öncül Ü, Kose E, Eminoğlu FT

Molecular syndromology 2022; (13(1)):69-74 doi:10.1159/000517797.

ALG11-CDG: novel variant and review of the literature.

Erdal AE, Ceylan AC, Gücüyener K, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(4)):409-413 doi:10.1515/jpem-2022-0480.

Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.

Lu S, Liang S, Wu Y, et al.

Frontiers in pediatrics 2023; (11()):1150367 doi:10.3389/fped.2023.1150367.

Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.

De Graef D, Mousa J, Waberski MB, Morava E

Therapeutic advances in rare disease 2022; (3()):26330040221091283 doi:10.1177/26330040221091283.

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.

Rani S, Sahai I, Misra M

JCEM case reports 2023; (1(5)):luad109 doi:10.1210/jcemcr/luad109.

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.

Luo C, Peng D, Li Y, et al.

Molecular genetics and metabolism reports 2024; (41()):101162 doi:10.1016/j.ymgmr.2024.101162.

A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.

Lin EB, Meregini S, Zhang Z, et al.

JCI insight 2025; (10(14)).

[Clinical characteristics and D-mannose treatment outcomes in 5 children with mannose phosphate isomerase-congenital disorders of glycosylation].

Zhang Y, Li LT, Wang NL, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2025; (63(10)):1136-1141 doi:10.3760/cma.j.cn112140-20250513-00403.

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review.

Martzolff L, Raynor A, Lebredonchel E, et al.

Molecular genetics and metabolism 2025; (146(4)):109269 doi:10.1016/j.ymgme.2025.109269.

Protein losing enteropathy due to congenital disorder of glycosylation: A case report.

Odenthal J, Lin HC, Trieschmann K

SAGE open medical case reports 2025; (13()):2050313X251397063 doi:10.1177/2050313X251397063.

Management of pregnancy and outcomes in a woman with mannose-6-phosphate isomerase deficiency (MPI-CDG).

Loh JHM, Khin MO, Bassett J, et al.

Molecular genetics and metabolism reports 2026; (48()):101329 doi:10.1016/j.ymgmr.2026.101329.

Navigating Protein-Losing Enteropathy: A Stepwise Approach for Primary Care Clinicians.

Saey SA, Kamalumpundi V, Bledsoe AC

Mayo Clinic proceedings 2026; (101(8)):1392-1399 doi:10.1016/j.mayocp.2026.04.023.